A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986601



Internal ID12981867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3849210..4209391hg38UCSC Ensembl
Innerchr8:3706732..4066913hg19UCSC Ensembl
Innerchr8:3694140..4054321hg18UCSC Ensembl
Innerchr8:3694140..4054321hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38360182
hg19360182
hg18360182
hg17360182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35028
Supporting Variants
SamplesNA19012
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986601
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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