A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752150



Internal ID12985702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157659832..158135832hg38UCSC Ensembl
Innerchr7:157452524..157928524hg19UCSC Ensembl
Innerchr7:157145285..157621285hg18UCSC Ensembl
Innerchr7:156952000..157428000hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38476001
hg19476001
hg18476001
hg17476001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981907, essv6981906, essv6981908, essv6981905, essv6987081
SamplesBEC_500
Known GenesLOC100506585, PTPRN2
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)esv2752150
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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