A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631426



Internal ID6671552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20219223..20261765hg38UCSC Ensembl
chr13:20793362..20835904hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3842543
hg1942543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14658009, essv14658008, essv14658010
SamplesHG00717, NA19762, HG02855
Known GenesGJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631426
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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