A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14658009



Internal ID4659825
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631426
Supporting Variants
SamplesHG02855
Known GenesGJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14658009
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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