A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892343



Internal ID18836477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51418581..52060832hg38UCSC Ensembl
Outerchr13:51418581..52060832hg38UCSC Ensembl
Innerchr13:51992717..52634968hg19UCSC Ensembl
Outerchr13:51992717..52634968hg19UCSC Ensembl
Innerchr13:50890718..51532969hg18UCSC Ensembl
Outerchr13:50890718..51532969hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38642252
hg19642252
hg18642252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789937, essv25790635
Samples
Known GenesALG11, ATP7B, CCDC70, DHRS12, INTS6, INTS6-AS1, LINC00282, MIR4703, UTP14C, WDFY2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892343
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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