A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34624



Internal ID12990660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100047765..100328823hg38UCSC Ensembl
Innerchr5:99383469..99664527hg19UCSC Ensembl
Innerchr5:99411368..99692426hg18UCSC Ensembl
Innerchr5:99411368..99692426hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38281059
hg19281059
hg18281059
hg17281059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979356, essv6979357, essv6986839, essv6979358
SamplesNA18532
Known Genes
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)esv34624
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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