A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422140



Internal ID8252588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377956..75590743hg38UCSC Ensembl
Innerchr3:75427107..75639894hg19UCSC Ensembl
Innerchr3:75509797..75722584hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38212788
hg19212788
hg18212788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5020902, essv5036095, essv5059478, essv5081927, essv5133104, essv5148695, essv5105913, essv5056742, essv5148572, essv5047467, essv5062657, essv5112450, essv5012527, essv5085159, essv5009433, essv5008703, essv5018833, essv5095229, essv5040374, essv5067353, essv5019395, essv5052966, essv5012646, essv5089170, essv5082003, essv5150342, essv5054274
SamplesNA12273, NA20517, NA20356, NA20279, NA20586, NA19784, NA21103, NA19782, NA20845, NA11831, NA12872, NA18579, NA20358, NA20525, NA11894, NA19781, NA20282, NA12043, NA12716, NA12864, NA12272, NA12873, NA19779, NA20807, NA21104, NA10864, NA10837
Known GenesFAM86DP
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)esv2422140
Frequency
Sample Size1184
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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