A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792388



Internal ID19179129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18223945..18441171hg38UCSC Ensembl
Innerchr14:19000422..19217648hg19UCSC Ensembl
Innerchr14:18070422..18287648hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38217227
hg19217227
hg18217227
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892456
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=82
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792388
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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