A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759381



Internal ID18386941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181491260..181491555hg38UCSC Ensembl
Outerchr2:181491204..181491598hg38UCSC Ensembl
Innerchr2:182355987..182356282hg19UCSC Ensembl
Outerchr2:182355931..182356325hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560634
Supporting Variants
Samples
Known GenesITGA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759381
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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