A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990379



Internal ID12980356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49519488..49607488hg38UCSC Ensembl
Innerchr8:50432047..50520047hg19UCSC Ensembl
Innerchr8:50594600..50682600hg18UCSC Ensembl
Innerchr8:50594600..50682600hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3888001
hg1988001
hg1888001
hg1788001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34784
Supporting Variants
SamplesNA18570
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990379
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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