A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752197



Internal ID12639063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12047020..12744462hg38UCSC Ensembl
Innerchr8:11904529..12601971hg19UCSC Ensembl
Innerchr8:11941938..12646342hg18UCSC Ensembl
Innerchr8:11941938..12646342hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38697443
hg19697443
hg18704405
hg17704405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244e55
Supporting Variantsessv6988652, essv6983306
SamplesBEC_636
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, LONRF1, MIR3926-1, MIR3926-2, USP17L2, USP17L7, ZNF705D
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)esv2752197
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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