A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988617



Internal ID12628024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97536996..97700996hg38UCSC Ensembl
Innerchr8:98549224..98713224hg19UCSC Ensembl
Innerchr8:98618400..98782400hg18UCSC Ensembl
Innerchr8:98618400..98782400hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38164001
hg19164001
hg18164001
hg17164001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752271
Supporting Variants
SamplesBEC_535
Known GenesMTDH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988617
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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