A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400389



Internal ID402205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4997286..4999508hg38UCSC Ensembl
Innerchr2:4997289..4999506hg38UCSC Ensembl
Outerchr2:4997284..4999511hg38UCSC Ensembl
chr2:5137419..5139641hg19UCSC Ensembl
Innerchr2:5137422..5139639hg19UCSC Ensembl
Outerchr2:5137417..5139644hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382223
hg192223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589695
Supporting Variants
SamplesHG02922
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400389
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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