A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750896



Internal ID12637762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44861146hg38UCSC Ensembl
Innerchr10:45210690..45356594hg19UCSC Ensembl
Innerchr10:44530696..44676600hg18UCSC Ensembl
Innerchr10:44530696..44676600hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38145905
hg19145905
hg18145905
hg17145905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e55
Supporting Variantsessv6983632, essv6983633, essv6983634, essv6988692, essv6986475
SamplesBEC_675
Known GenesTMEM72-AS1
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)esv2750896
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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