A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695716



Internal ID4635068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143871920..143879189hg38UCSC Ensembl
Innerchr2:143871973..143879136hg38UCSC Ensembl
Outerchr2:143871867..143879242hg38UCSC Ensembl
chr2:144629488..144636757hg19UCSC Ensembl
Innerchr2:144629541..144636704hg19UCSC Ensembl
Outerchr2:144629435..144636810hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg387270
hg197270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592758
Supporting Variants
SamplesHG04164
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695716
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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