A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14658002



Internal ID4659818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20190147..20280383hg38UCSC Ensembl
chr13:20764286..20854522hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3890237
hg1990237
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631424
Supporting Variants
SamplesHG00717
Known GenesGJB2, GJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14658002
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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