A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978156



Internal ID12981504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829880..6085160hg38UCSC Ensembl
Innerchr8:3687402..5942682hg19UCSC Ensembl
Innerchr8:3674810..5930090hg18UCSC Ensembl
Innerchr8:3674810..5930090hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382255281
hg192255281
hg182255281
hg172255281
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978156
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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