A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984007



Internal ID12977531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118100580..118126580hg38UCSC Ensembl
Innerchr8:119112819..119138819hg19UCSC Ensembl
Innerchr8:119182000..119208000hg18UCSC Ensembl
Innerchr8:119182000..119208000hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3826001
hg1926001
hg1826001
hg1726001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752195
Supporting Variants
SamplesBEC_742
Known GenesEXT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984007
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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