A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12118922



Internal ID2120738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161532710..161710411hg38UCSC Ensembl
chr5:160959716..161137417hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38177702
hg19177702
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607404
Supporting Variants
SamplesHG01528
Known GenesGABRA6, GABRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12118922
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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