A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560507



Internal ID18761583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168730610..168731693hg38UCSC Ensembl
Outerchr2:168730512..168731740hg38UCSC Ensembl
Innerchr2:169587120..169588203hg19UCSC Ensembl
Outerchr2:169587022..169588250hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759254
Samples
Known GenesCERS6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560507
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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