A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978849



Internal ID12979209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50863887..50970887hg38UCSC Ensembl
Innerchr8:51776447..51883447hg19UCSC Ensembl
Innerchr8:51939000..52046000hg18UCSC Ensembl
Innerchr8:51939000..52046000hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38107001
hg19107001
hg18107001
hg17107001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34807
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978849
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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