A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752090



Internal ID12638956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:138395100..138705640hg38UCSC Ensembl
Innerchr6:138716237..139026777hg19UCSC Ensembl
Innerchr6:138757930..139068470hg18UCSC Ensembl
Innerchr6:138757930..139068470hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38310541
hg19310541
hg18310541
hg17310541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982872, essv6986294, essv6982874, essv6986293, essv6982873
SamplesBEC_606
Known GenesFLJ46906, HEBP2, MIR3145, NHSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752090
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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