A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421427



Internal ID7905189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43592920..43696355hg38UCSC Ensembl
Innerchr15:43885118..43988553hg19UCSC Ensembl
Innerchr15:41672410..41775845hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38103436
hg19103436
hg18103436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5015320, essv5100972, essv5145325, essv5092986, essv5012544, essv5133707, essv5149575, essv5112235, essv5028275, essv5070396, essv5081515, essv5144267, essv5043001, essv5094575, essv5022506, essv5054081, essv5078519, essv5040993, essv5033350, essv5086406, essv5127871, essv5066882, essv5003753, essv5046421, essv5100272, essv5042549
SamplesNA18497, NA20284, NA17969, NA11920, NA19443, NA19067, NA20279, NA19138, NA18498, NA19238, NA18638, NA19714, NA19161, NA20770, NA20903, NA19449, NA20282, NA18963, NA21356, NA19160, NA19436, NA12716, NA19240, NA19470, NA19398, NA21090
Known GenesCATSPER2, CKMT1A, CKMT1B, RNU6-28P, STRC
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)esv2421427
Frequency
Sample Size1184
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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