A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750960



Internal ID12637826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46188877..46313639hg38UCSC Ensembl
Innerchr10:47560113..47684875hg19UCSC Ensembl
Innerchr10:47030119..47154881hg18UCSC Ensembl
Innerchr10:47030119..47154881hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38124763
hg19124763
hg18124763
hg17124763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e55
Supporting Variantsessv6982703, essv6986246
SamplesBEC_581
Known GenesANTXRL, ANTXRLP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750960
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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