A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978373



Internal ID12981831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3849210..6083970hg38UCSC Ensembl
Innerchr8:3706732..5941492hg19UCSC Ensembl
Innerchr8:3694140..5928900hg18UCSC Ensembl
Innerchr8:3694140..5928900hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382234761
hg192234761
hg182234761
hg172234761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34221
Supporting Variants
SamplesNA19007
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978373
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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