A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789966



Internal ID19168110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43048350..43481448hg38UCSC Ensembl
Innerchr14:43517553..43950651hg19UCSC Ensembl
Innerchr14:42587303..43020401hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38433099
hg19433099
hg18433099
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892523
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789966
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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