A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892523



Internal ID19183343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43068654..43477886hg38UCSC Ensembl
Outerchr14:43048350..43484138hg38UCSC Ensembl
Innerchr14:43537857..43947089hg19UCSC Ensembl
Outerchr14:43517553..43953341hg19UCSC Ensembl
Innerchr14:42607607..43016839hg18UCSC Ensembl
Outerchr14:42587303..43023091hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38435789
hg19435789
hg18435789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25793039, essv25792680, essv25788297, essv25787973, essv25789966
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892523
Frequency
Sample Size3017
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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