A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561320



Internal ID18762396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241913840..242081908hg38UCSC Ensembl
Outerchr2:241910850..242093990hg38UCSC Ensembl
Innerchr2:242855991..243024059hg19UCSC Ensembl
Outerchr2:242853001..243036141hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38183141
hg19183141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760067
Samples
Known GenesLOC728323
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561320
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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