A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34210



Internal ID12643563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828727..43034808hg38UCSC Ensembl
Innerchr19:43332879..43538960hg19UCSC Ensembl
Innerchr19:48024719..48230800hg18UCSC Ensembl
Innerchr19:48024719..48230800hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38206082
hg19206082
hg18206082
hg17206082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142e55
Supporting Variantsessv6988147, essv6989082, essv6979301, essv6979300
SamplesNA18524
Known GenesPSG1, 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)esv34210
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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