A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12119042



Internal ID6013252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162116250..162116854hg38UCSC Ensembl
Innerchr5:162116300..162116804hg38UCSC Ensembl
Outerchr5:162116142..162116962hg38UCSC Ensembl
chr5:161543256..161543860hg19UCSC Ensembl
Innerchr5:161543306..161543810hg19UCSC Ensembl
Outerchr5:161543148..161543968hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607413
Supporting Variants
SamplesNA19429
Known GenesGABRG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12119042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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