A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560983



Internal ID18762059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216225304..216227713hg38UCSC Ensembl
Outerchr2:216224923..216228386hg38UCSC Ensembl
Innerchr2:217090027..217092436hg19UCSC Ensembl
Outerchr2:217089646..217093109hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383464
hg193464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759730
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560983
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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