A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790422



Internal ID19168937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30770756..30848428hg38UCSC Ensembl
Innerchr14:31239962..31317634hg19UCSC Ensembl
Innerchr14:30309713..30387385hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3877673
hg1977673
hg1877673
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892494
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790422
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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