A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978157



Internal ID12981503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3849210..6083968hg38UCSC Ensembl
Innerchr8:3706732..5941490hg19UCSC Ensembl
Innerchr8:3694140..5928898hg18UCSC Ensembl
Innerchr8:3694140..5928898hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382234759
hg192234759
hg182234759
hg172234759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34327
Supporting Variants
SamplesNA18972
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978157
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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