A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758917



Internal ID18733163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133854479..133855695hg38UCSC Ensembl
Outerchr2:133854337..133856000hg38UCSC Ensembl
Innerchr2:134612050..134613266hg19UCSC Ensembl
Outerchr2:134611908..134613571hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560170
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758917
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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