A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34798



Internal ID12990834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:19995420..20048189hg38UCSC Ensembl
Innerchr10:20284349..20337118hg19UCSC Ensembl
Innerchr10:20324355..20377124hg18UCSC Ensembl
Innerchr10:20324355..20377124hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3852770
hg1952770
hg1852770
hg1752770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988066, essv6978891, essv6978892
SamplesNA12760
Known GenesPLXDC2
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)esv34798
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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