A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792483



Internal ID19175718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43012874..43061086hg38UCSC Ensembl
Innerchr14:43482077..43530289hg19UCSC Ensembl
Innerchr14:42551827..42600039hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3848213
hg1948213
hg1848213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892528
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792483
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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