A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990208



Internal ID12981577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2147517..2529767hg38UCSC Ensembl
Innerchr8:2095441..2386894hg19UCSC Ensembl
Innerchr8:2082848..2374301hg18UCSC Ensembl
Innerchr8:2082848..2374301hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38382251
hg19291454
hg18291454
hg17291454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34364
Supporting Variants
SamplesNA18976
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990208
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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