A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758850



Internal ID18733096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127794239..127797218hg38UCSC Ensembl
Outerchr2:127794220..127797234hg38UCSC Ensembl
Innerchr2:128551813..128554792hg19UCSC Ensembl
Outerchr2:128551794..128554808hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383015
hg193015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560103
Supporting Variants
Samples
Known GenesWDR33
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758850
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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