A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750965



Internal ID12984517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:55875052..56019469hg38UCSC Ensembl
Innerchr10:57634812..57779230hg19UCSC Ensembl
Innerchr10:57304818..57449236hg18UCSC Ensembl
Innerchr10:57304818..57449236hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38144418
hg19144419
hg18144419
hg17144419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980742, essv6980743, essv6980744, essv6985393
SamplesBEC_131
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)esv2750965
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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