A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984290



Internal ID12976742
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 StatusS
Merged Variantsesv2751800
Supporting Variants
SamplesBEC_686
Known GenesFPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984290
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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