A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752271



Internal ID12639137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97536996..97728191hg38UCSC Ensembl
Innerchr8:98549224..98740419hg19UCSC Ensembl
Innerchr8:98618400..98809595hg18UCSC Ensembl
Innerchr8:98618400..98809595hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38191196
hg19191196
hg18191196
hg17191196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988617, essv6983034, essv6986331, essv6983035
SamplesBEC_535
Known GenesMTDH
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)esv2752271
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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