A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788230



Internal ID19180123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53407265..53472214hg38UCSC Ensembl
Innerchr19:53910518..53975468hg19UCSC Ensembl
Innerchr19:58602330..58667280hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3864950
hg1964951
hg1864951
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893243
Supporting Variants
Samples
Known GenesTPM3P9, ZNF761, ZNF765, ZNF813
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788230
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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