A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751792



Internal ID12985344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42801292..43034789hg38UCSC Ensembl
Innerchr19:43305444..43538941hg19UCSC Ensembl
Innerchr19:47997284..48230781hg18UCSC Ensembl
Innerchr19:47997284..48230781hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38233498
hg19233498
hg18233498
hg17233498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142e55
Supporting Variantsessv6988012, essv6981780, essv6981781
SamplesBEC_468
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, 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)esv2751792
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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