A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759326



Internal ID18733572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175844752..175844993hg38UCSC Ensembl
Outerchr2:175844740..175845040hg38UCSC Ensembl
Innerchr2:176709480..176709721hg19UCSC Ensembl
Outerchr2:176709468..176709768hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560579
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759326
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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