A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34502



Internal ID12643853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51782576..52101372hg38UCSC Ensembl
Innerchr19:52285829..52604625hg19UCSC Ensembl
Innerchr19:56977641..57296437hg18UCSC Ensembl
Innerchr19:56977641..57296437hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38318797
hg19318797
hg18318797
hg17318797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e55
Supporting Variantsessv6986512, essv6977996, essv6977995
SamplesNA10855
Known GenesFPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34502
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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