A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553411



Internal ID18754487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20466921..20467200hg38UCSC Ensembl
Outerchr2:20466852..20467277hg38UCSC Ensembl
Innerchr2:20666682..20666961hg19UCSC Ensembl
Outerchr2:20666613..20667038hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv235e215
Supporting Variantsessv9752158
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553411
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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