A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752205



Internal ID12985757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374449..12585653hg38UCSC Ensembl
Innerchr8:12231958..12443162hg19UCSC Ensembl
Innerchr8:12276329..12487533hg18UCSC Ensembl
Innerchr8:12276329..12487533hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38211205
hg19211205
hg18211205
hg17211205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e55
Supporting Variantsessv6982805, essv6982806
SamplesBEC_596
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752205
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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