A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750973



Internal ID12984525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:66955284..67157436hg38UCSC Ensembl
Innerchr10:68715042..68917194hg19UCSC Ensembl
Innerchr10:68385048..68587200hg18UCSC Ensembl
Innerchr10:68385048..68587200hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38202153
hg19202153
hg18202153
hg17202153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33e55
Supporting Variantsessv6984373, essv6984372, essv6987578, essv6984374
SamplesBEC_696
Known GenesCTNNA3, LRRTM3
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)esv2750973
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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