A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893533



Internal ID18837667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204276082..204570913hg38UCSC Ensembl
Outerchr2:204276082..204570913hg38UCSC Ensembl
Innerchr2:205140805..205435636hg19UCSC Ensembl
Outerchr2:205140805..205435636hg19UCSC Ensembl
Innerchr2:204849050..205143881hg18UCSC Ensembl
Outerchr2:204849050..205143881hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38294832
hg19294832
hg18294832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791310
Samples
Known GenesPARD3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893533
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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