A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10705237



Internal ID5054353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147084802..147115244hg38UCSC Ensembl
Innerchr2:147085302..147114744hg38UCSC Ensembl
Outerchr2:147083802..147116244hg38UCSC Ensembl
chr2:147842370..147872812hg19UCSC Ensembl
Innerchr2:147842870..147872312hg19UCSC Ensembl
Outerchr2:147841370..147873812hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3830443
hg1930443
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592812
Supporting Variants
SamplesNA18533
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10705237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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