A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750847



Internal ID12637713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:101295225..101692888hg38UCSC Ensembl
Innerchr10:103054982..103452645hg19UCSC Ensembl
Innerchr10:103044972..103442635hg18UCSC Ensembl
Innerchr10:103044972..103442635hg17UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38397664
hg19397664
hg18397664
hg17397664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983780, essv6983782, essv6983781, essv6987413
SamplesBEC_626
Known GenesBTRC, DPCD, FBXW4, MIR3158-1, MIR3158-2, POLL
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)esv2750847
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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