A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10709093



Internal ID5085796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149595906..149596667hg38UCSC Ensembl
Innerchr2:149595943..149596630hg38UCSC Ensembl
Outerchr2:149595869..149596704hg38UCSC Ensembl
chr2:150452420..150453181hg19UCSC Ensembl
Innerchr2:150452457..150453144hg19UCSC Ensembl
Outerchr2:150452383..150453218hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592870
Supporting Variants
SamplesNA18546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10709093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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