A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421662



Internal ID7905424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12781785..12911989hg38UCSC Ensembl
Innerchr1:12841928..12971833hg19UCSC Ensembl
Innerchr1:12764515..12894420hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38130205
hg19129906
hg18129906
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5144838, essv5138370, essv5077663, essv5038349, essv5107947, essv5039373, essv5027197, essv5109345, essv5023516, essv5122638, essv5018478, essv5140930, essv5139478, essv5034347, essv5048343, essv5116223, essv5018496, essv5098033, essv5088719, essv5089177, essv5122668, essv5084483, essv5116865, essv5082781, essv5106036, essv5133462, essv5129922, essv5003555, essv5050218, essv5159736, essv5013828, essv5041350, essv5053293, essv5074962, essv5102044, essv5040953, essv5030453, essv5132926, essv5111327, essv5140420, essv5053532, essv5025654, essv5072990, essv5159266, essv5102257, essv5098165, essv5128528, essv5131081, essv5024400, essv5065514, essv5029580, essv5134010, essv5109453, essv5017667, essv5089601, essv5098485, essv5009132, essv5073546, essv5051593, essv5018867, essv5059824, essv5114531, essv5104297, essv5064090, essv5124804, essv5006338, essv5061766, essv5116203, essv5109420, essv5150257, essv5009774, essv5057726, essv5012238, essv5022261, essv5049008, essv5061594, essv5068309, essv5115604, essv5121017, essv5040928, essv5097924, essv5102370, essv5038935, essv5143438, essv5115549, essv5120396, essv5024352, essv5117560, essv5066353, essv5067055
SamplesNA20887, NA12718, NA18863, NA19436, NA21512, NA12344, NA18951, NA21367, NA21317, NA11918, NA19748, NA10847, NA19334, NA18969, NA18161, NA18702, NA10853, NA18963, NA11891, NA19915, NA18109, NA18965, NA19236, NA17962, NA12044, NA18559, NA19914, NA12763, NA18624, NA21111, NA12753, NA21088, NA19390, NA12383, NA18622, NA18617, NA18990, NA18991, NA21596, NA19083, NA19908, NA19066, NA21119, NA18593, NA19681, NA21144, NA19919, NA21102, NA19721, NA18144, NA19313, NA21740, NA18135, NA21318, NA19103, NA21316, NA18923, NA20818, NA21381, NA21364, NA20828, NA18925, NA21784, NA20542, NA19720, NA17996, NA19789, NA21635, NA18955, NA12375, NA19683, NA20337, NA19747, NA21383, NA21519, NA18614, NA19770, NA20810, NA10838, NA21414, NA12546, NA18924, NA18611, NA12874, NA18981, NA17965, NA19468, NA18555, NA17974, NA21636
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4
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)esv2421662
Frequency
Sample Size1184
Observed Gain20
Observed Loss70
Observed Complex0
Frequencyn/a


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