A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752196



Internal ID12985748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12047020..12624470hg38UCSC Ensembl
Innerchr8:11904529..12481979hg19UCSC Ensembl
Innerchr8:11941938..12526350hg18UCSC Ensembl
Innerchr8:11941938..12526350hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38577451
hg19577451
hg18584413
hg17584413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244e55
Supporting Variantsessv6982448, essv6982447
SamplesBEC_445
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, 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)esv2752196
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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