A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752198



Internal ID12985750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12145208..12635676hg38UCSC Ensembl
Innerchr8:12002717..12493185hg19UCSC Ensembl
Innerchr8:12040126..12537556hg18UCSC Ensembl
Innerchr8:12040126..12537556hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38490469
hg19490469
hg18497431
hg17497431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244e55
Supporting Variantsessv6985621, essv6981633
SamplesBEC_309
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, 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)esv2752198
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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