A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751794



Internal ID12985346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42920898..43207440hg38UCSC Ensembl
Innerchr19:43425050..43711592hg19UCSC Ensembl
Innerchr19:48116890..48403432hg18UCSC Ensembl
Innerchr19:48116890..48403432hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38286543
hg19286543
hg18286543
hg17286543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984276, essv6984277
SamplesBEC_683
Known GenesPSG11, PSG2, PSG4, PSG5, PSG7
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)esv2751794
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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