A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752200



Internal ID12985752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12362740..12545432hg38UCSC Ensembl
Innerchr8:12220249..12402941hg19UCSC Ensembl
Innerchr8:12264620..12447312hg18UCSC Ensembl
Innerchr8:12264620..12447312hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38182693
hg19182693
hg18182693
hg17182693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e55
Supporting Variantsessv6983215, essv6986373
SamplesBEC_556
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)esv2752200
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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