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Variant : CV228072 (GRCh37/hg19 20p13(chr20:113651-184813)) Homo sapiens

Symbol: CV228072
Name: GRCh37/hg19 20p13(chr20:113651-184813)
Condition: Abnormality of esophagus morphology [RCV000416813]|Abnormality of the esophagus [RCV000416813]
Clinical Significance: likely benign
Last Evaluated: 12/15/2015
Review Status: criteria provided, single submitter
Related Genes: DEFB126   DEFB127   DEFB128  
Variant Type: copy number loss (SO:0001743)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh3720113,651 - 184,813CLINVAR
Cytogenetic Map2020p13CLINVAR
Trait Synonyms: Anomaly of the esophagus

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12791444
Created: 2017-03-07
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.