A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751536



Internal ID12985088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57335210..57496210hg38UCSC Ensembl
Innerchr15:57627408..57788408hg19UCSC Ensembl
Innerchr15:55414700..55575700hg18UCSC Ensembl
Innerchr15:55414700..55575700hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38161001
hg19161001
hg18161001
hg17161001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988433, essv6981657, essv6981655, essv6981656, essv6985630
SamplesBEC_312
Known GenesCGNL1
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)esv2751536
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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