A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752206



Internal ID12985758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374449..12728752hg38UCSC Ensembl
Innerchr8:12231958..12586261hg19UCSC Ensembl
Innerchr8:12276329..12630632hg18UCSC Ensembl
Innerchr8:12276329..12630632hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38354304
hg19354304
hg18354304
hg17354304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv246e55
Supporting Variantsessv6982355, essv6988525
SamplesBEC_425
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732, LONRF1, MIR3926-1, MIR3926-2
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)esv2752206
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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