A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759623



Internal ID18733869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206996334..207003276hg38UCSC Ensembl
Outerchr2:206995777..207004313hg38UCSC Ensembl
Innerchr2:207861058..207868000hg19UCSC Ensembl
Outerchr2:207860501..207869037hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388537
hg198537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560876
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759623
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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