A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891761



Internal ID18839471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13544627..13682841hg38UCSC Ensembl
Outerchr10:13544627..13695972hg38UCSC Ensembl
Innerchr10:13586627..13724841hg19UCSC Ensembl
Outerchr10:13586627..13737972hg19UCSC Ensembl
Innerchr10:13626633..13764847hg18UCSC Ensembl
Outerchr10:13626633..13777978hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38151346
hg19151346
hg18151346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788206, essv25788276
Samples
Known GenesFRMD4A, PRPF18
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891761
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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