A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750959



Internal ID12637825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46188877..46287904hg38UCSC Ensembl
Innerchr10:47560113..47659140hg19UCSC Ensembl
Innerchr10:47030119..47129146hg18UCSC Ensembl
Innerchr10:47030119..47129146hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3899028
hg1999028
hg1899028
hg1799028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981124, essv6989223, essv6987915
SamplesBEC_355
Known GenesANTXRL, ANTXRLP1
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)esv2750959
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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