A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421340



Internal ID8251788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62303056..62311526hg38UCSC Ensembl
Innerchr8:63215615..63224085hg19UCSC Ensembl
Innerchr8:63378169..63386639hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg388471
hg198471
hg188471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5091499, essv5132249, essv5081941, essv5053542, essv5008696, essv5033485, essv5030327, essv5010736, essv5126667, essv5110003, essv5071028, essv5006827, essv5101497, essv5131399, essv5149626, essv5146072, essv5092340, essv5076619, essv5050081, essv5032207, essv5032583, essv5025215, essv5159945, essv5052086, essv5021676, essv5149075, essv5028163, essv5155085, essv5002949, essv5024762, essv5084614, essv5081715, essv5161043, essv5018739, essv5051209, essv5130827, essv5100595, essv5043155, essv5011829, essv5006916, essv5112593, essv5110070, essv5135338, essv5064526, essv5094993, essv5051370, essv5024843, essv5062983, essv5112628, essv5040965, essv5118261, essv5092439, essv5086933, essv5065614, essv5128162, essv5107680, essv5076629, essv5046285, essv5036330, essv5019449, essv5149413, essv5056856, essv5152185, essv5010729, essv5013769, essv5012112, essv5105355, essv5057055, essv5013927, essv5062499, essv5088482, essv5103721, essv5026870, essv5063713, essv5022012, essv5055264, essv5023809, essv5024496, essv5126796, essv5077331, essv5046191, essv5040017, essv5047842, essv5112364, essv5103457, essv5038437, essv5125881, essv5152551, essv5028478, essv5017154, essv5137416, essv5101743, essv5121056, essv5032898, essv5033755, essv5070732, essv5153254, essv5056860, essv5045805, essv5031516, essv5135024, essv5089813, essv5127866, essv5095556, essv5071439, essv5150773, essv5015902, essv5157637, essv5071803, essv5082464, essv5115890, essv5144114, essv5129629, essv5144584, essv5087140, essv5124393, essv5090419, essv5149408, essv5097971, essv5108914, essv5105698, essv5048321, essv5079441
SamplesNA19394, NA18497, NA19701, NA19028, NA19141, NA19186, NA19703, NA18508, NA18855, NA19704, NA18507, NA21399, NA18486, NA18925, NA19836, NA19443, NA19190, NA18870, NA21776, NA19381, NA19171, NA21405, NA19902, NA18923, NA18860, NA19352, NA19197, NA19313, NA21381, NA19384, NA20291, NA19130, NA19760, NA19038, NA19404, NA19199, NA19383, NA19180, NA18874, NA18868, NA20349, NA19215, NA19137, NA19372, NA19238, NA19172, NA19471, NA19901, NA19985, NA19451, NA19200, NA19027, NA20301, NA19714, NA19403, NA18859, NA19184, NA18485, NA19455, NA19176, NA18910, NA19097, NA19179, NA19151, NA18499, NA19031, NA19154, NA18857, NA20282, NA19099, NA19225, NA19756, NA21583, NA19160, NA19132, NA19095, NA19625, NA19436, NA19440, NA18909, NA21719, NA19834, NA19108, NA19149, NA19712, NA18913, NA21616, NA19334, NA19439, NA19428, NA19311, NA19310, NA19467, NA21619, NA18911, NA19182, NA19117, NA18501, NA18484, NA21379, NA19109, NA20302, NA19705, NA19223, NA19173, NA19474, NA18873, NA19096, NA19711, NA19213, NA18872, NA19757, NA19430, NA19146, NA18488, NA19148, NA19139, NA18511, NA19046, NA19429, NA18487, NA20350, NA19153
Known GenesNKAIN3
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)esv2421340
Frequency
Sample Size1184
Observed Gain0
Observed Loss123
Observed Complex0
Frequencyn/a


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