A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10564680



Internal ID3497364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84215690..84221135hg38UCSC Ensembl
Innerchr2:84215695..84221130hg38UCSC Ensembl
Outerchr2:84215685..84221140hg38UCSC Ensembl
chr2:84442814..84448259hg19UCSC Ensembl
Innerchr2:84442819..84448254hg19UCSC Ensembl
Outerchr2:84442809..84448264hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385446
hg195446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591507
Supporting Variants
SamplesHG03105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10564680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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