A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792721



Internal ID19179712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47794847..47933726hg38UCSC Ensembl
Innerchr14:48264050..48402929hg19UCSC Ensembl
Innerchr14:47333800..47472679hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38138880
hg19138880
hg18138880
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892534
Supporting Variants
Samples
Known GenesLINC00648
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792721
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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