A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752195



Internal ID12985747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118046580..118127580hg38UCSC Ensembl
Innerchr8:119058819..119139819hg19UCSC Ensembl
Innerchr8:119128000..119209000hg18UCSC Ensembl
Innerchr8:119128000..119209000hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3881001
hg1981001
hg1881001
hg1781001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987473, essv6988742, essv6984007
SamplesBEC_742
Known GenesEXT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752195
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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