A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5076309



Internal ID7820167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30198235..30502736hg38UCSC Ensembl
Innerchr15:30490438..30794939hg19UCSC Ensembl
Innerchr15:28277730..28582231hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38304502
hg19304502
hg18304502
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421738
Supporting Variants
SamplesNA12056
Known GenesCHRFAM7A, DKFZP434L187, LOC101059918
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5076309
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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