A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751801



Internal ID12985353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51782535..52101372hg38UCSC Ensembl
Innerchr19:52285788..52604625hg19UCSC Ensembl
Innerchr19:56977600..57296437hg18UCSC Ensembl
Innerchr19:56977600..57296437hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38318838
hg19318838
hg18318838
hg17318838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e55
Supporting Variantsessv6984935, essv6984937, essv6987118, essv6984936, essv6987117
SamplesSPC_195
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)esv2751801
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer