A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557600



Internal ID18758676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62629050..62629881hg38UCSC Ensembl
Outerchr2:62628932..62629962hg38UCSC Ensembl
Innerchr2:62856185..62857016hg19UCSC Ensembl
Outerchr2:62856067..62857097hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756347
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557600
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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