A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791310



Internal ID18821493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204276082..204570913hg38UCSC Ensembl
Innerchr2:205140805..205435636hg19UCSC Ensembl
Innerchr2:204849050..205143881hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38294832
hg19294832
hg18294832
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893533
Supporting Variants
Samples
Known GenesPARD3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=91
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791310
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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