A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591234



Internal ID6978562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71945147..71956644hg38UCSC Ensembl
Innerchr2:71945297..71956494hg38UCSC Ensembl
Outerchr2:71944997..71956794hg38UCSC Ensembl
chr2:72172277..72183774hg19UCSC Ensembl
Innerchr2:72172427..72183624hg19UCSC Ensembl
Outerchr2:72172127..72183924hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3811498
hg1911498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10539152
SamplesHG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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