A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34348



Internal ID12990387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66657367..66751654hg38UCSC Ensembl
Innerchr13:67231499..67325786hg19UCSC Ensembl
Innerchr13:66129500..66223787hg18UCSC Ensembl
Innerchr13:66129500..66223787hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3894288
hg1994288
hg1894288
hg1794288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979634, essv6989107, essv6979635, essv6988212
SamplesNA18592
Known GenesPCDH9
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)esv34348
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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