A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421631



Internal ID7905393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:133449571..133452827hg38UCSC Ensembl
Innerchr11:133319466..133322722hg19UCSC Ensembl
Innerchr11:132824676..132827932hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg383257
hg193257
hg183257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5087044, essv5101866, essv5121529, essv5127452, essv5135953, essv5110337, essv5108267, essv5101645, essv5101270, essv5018936, essv5043658, essv5009754, essv5055904, essv5009955, essv5149480, essv5088394, essv5136655, essv5022974, essv5026399, essv5007900, essv5113417, essv5003384, essv5112789, essv5030282, essv5134720, essv5061052, essv5024985, essv5028823, essv5020957, essv5039074, essv5044770, essv5003417, essv5108518, essv5092542, essv5039479, essv5126210, essv5063709, essv5138538, essv5050385, essv5136257, essv5140921, essv5041307, essv5061772, essv5121700, essv5112140, essv5087324, essv5067901, essv5047244, essv5098596, essv5037934, essv5138832, essv5070842, essv5028187, essv5134019, essv5068743, essv5057836, essv5006913, essv5126984, essv5138580, essv5047195, essv5104331, essv5138636
SamplesNA21741, NA21438, NA21723, NA21441, NA21490, NA21297, NA21578, NA21404, NA19186, NA19150, NA21403, NA20292, NA21386, NA20363, NA19180, NA19151, NA21384, NA19226, NA21528, NA21314, NA21577, NA19390, NA19199, NA21488, NA21716, NA19197, NA18930, NA21582, NA20127, NA19398, NA21522, NA21608, NA21650, NA21491, NA20128, NA21333, NA20291, NA20345, NA21739, NA21382, NA21364, NA18925, NA20290, NA21370, NA19138, NA21682, NA19035, NA21420, NA21733, NA21383, NA19446, NA21519, NA21362, NA18917, NA21414, NA18924, NA19179, NA21355, NA21614, NA21387, NA19185, NA21573
Known GenesOPCML
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)esv2421631
Frequency
Sample Size1184
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer