A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34306



Internal ID12643659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:19488140..19829015hg38UCSC Ensembl
Innerchr10:19777069..20117944hg19UCSC Ensembl
Innerchr10:19817075..20157950hg18UCSC Ensembl
Innerchr10:19817075..20157950hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38340876
hg19340876
hg18340876
hg17340876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988210, essv6979632, essv6979631, essv6988211, essv6979633
SamplesNA18592
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)esv34306
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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