A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893573



Internal ID18837707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233595452..233639688hg38UCSC Ensembl
Outerchr2:233595452..233639688hg38UCSC Ensembl
Innerchr2:234504098..234548334hg19UCSC Ensembl
Outerchr2:234504098..234548334hg19UCSC Ensembl
Innerchr2:234168837..234213073hg18UCSC Ensembl
Outerchr2:234168837..234213073hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3844237
hg1944237
hg1844237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790924
Samples
Known GenesUGT1A10, UGT1A8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893573
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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