A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892534



Internal ID19183354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47808119..47933726hg38UCSC Ensembl
Outerchr14:47794847..47933726hg38UCSC Ensembl
Innerchr14:48277322..48402929hg19UCSC Ensembl
Outerchr14:48264050..48402929hg19UCSC Ensembl
Innerchr14:47347072..47472679hg18UCSC Ensembl
Outerchr14:47333800..47472679hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38138880
hg19138880
hg18138880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25793019, essv25792721, essv25788855, essv25788852, essv25790785
Samples
Known GenesLINC00648
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892534
Frequency
Sample Size3017
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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