A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421404



Internal ID7905166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18559730..18739886hg38UCSC Ensembl
Innerchr16:18571052..18751208hg19UCSC Ensembl
Innerchr16:18478553..18658709hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38180157
hg19180157
hg18180157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5146216, essv5052228, essv5020888, essv5091804, essv5052933, essv5136322, essv5106027, essv5136338, essv5003653, essv5007027, essv5108025, essv5058985, essv5108552, essv5018786, essv5038642, essv5068562, essv5117031, essv5109582, essv5149263, essv5122228, essv5096022, essv5113273, essv5144067, essv5018731, essv5153255, essv5015650, essv5048681, essv5039010, essv5110268, essv5082981, essv5017235, essv5005183, essv5155010, essv5097743, essv5126927
SamplesNA21678, NA18952, NA21529, NA17990, NA18570, NA18603, NA17998, NA21825, NA21415, NA17969, NA18127, NA18157, NA18628, NA20849, NA18617, NA18641, NA18638, NA18976, NA19681, NA19056, NA21650, NA20341, NA18633, NA20126, NA18131, NA18151, NA21619, NA19328, NA17987, NA18974, NA18987, NA19078, NA19683, NA17968, NA19439
Known GenesABCC6P1, NOMO2
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)esv2421404
Frequency
Sample Size1184
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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