A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750894



Internal ID12637760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44707669..44856971hg38UCSC Ensembl
Innerchr10:45203117..45352419hg19UCSC Ensembl
Innerchr10:44523123..44672425hg18UCSC Ensembl
Innerchr10:44523123..44672425hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38149303
hg19149303
hg18149303
hg17149303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e55
Supporting Variantsessv6985053, essv6988885, essv6987142, essv6985052, essv6985051
SamplesBEC_830
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)esv2750894
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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