A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590103



Internal ID6977431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25990518..25996906hg38UCSC Ensembl
Innerchr2:25990518..25996906hg38UCSC Ensembl
Outerchr2:25990018..25997406hg38UCSC Ensembl
chr2:26213387..26219775hg19UCSC Ensembl
Innerchr2:26213387..26219775hg19UCSC Ensembl
Outerchr2:26212887..26220275hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386389
hg196389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433199, essv10433198
SamplesNA20321, NA20320
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590103
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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