A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759555



Internal ID18733801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199624894..199625343hg38UCSC Ensembl
Outerchr2:199624889..199625381hg38UCSC Ensembl
Innerchr2:200489617..200490066hg19UCSC Ensembl
Outerchr2:200489612..200490104hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560808
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759555
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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