A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10766547



Internal ID3785283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176060649..176066428hg38UCSC Ensembl
Innerchr2:176060652..176066426hg38UCSC Ensembl
Outerchr2:176060647..176066431hg38UCSC Ensembl
chr2:176925377..176931156hg19UCSC Ensembl
Innerchr2:176925380..176931154hg19UCSC Ensembl
Outerchr2:176925375..176931159hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385780
hg195780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593437
Supporting Variants
SamplesHG03433
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10766547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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