A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752208



Internal ID12639074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127632573..127895715hg38UCSC Ensembl
Innerchr8:128644818..128907961hg19UCSC Ensembl
Innerchr8:128714000..128977143hg18UCSC Ensembl
Innerchr8:128714000..128977143hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38263143
hg19263144
hg18263144
hg17263144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984213, essv6987529, essv6984214
SamplesBEC_806
Known GenesMIR1204, MYC, PVT1
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)esv2752208
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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