A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750958



Internal ID12637824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46188858..46370877hg38UCSC Ensembl
Innerchr10:47560094..47742094hg19UCSC Ensembl
Innerchr10:47030100..47212100hg18UCSC Ensembl
Innerchr10:47030100..47212100hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38182020
hg19182001
hg18182001
hg17182001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28e55
Supporting Variantsessv6982570, essv6982571, essv6982569, essv6988553
SamplesBEC_568
Known GenesANTXRL, ANTXRLP1, FAM25B
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)esv2750958
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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