A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983594



Internal ID12629861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51756335..52030035hg38UCSC Ensembl
Innerchr19:52259588..52533288hg19UCSC Ensembl
Innerchr19:56951400..57225100hg18UCSC Ensembl
Innerchr19:56951400..57225100hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38273701
hg19273701
hg18273701
hg17273701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751797
Supporting Variants
SamplesBEC_671
Known GenesFPR2, FPR3, HCCAT3, ZNF350, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983594
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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