A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421683



Internal ID7905445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160207873..160217044hg38UCSC Ensembl
Innerchr6:160628905..160638076hg19UCSC Ensembl
Innerchr6:160548895..160558066hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg389172
hg199172
hg189172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5003951, essv5151512, essv5132067, essv5111988, essv5114788, essv5039685, essv5006575, essv5030774, essv5087087, essv5030128, essv5015342, essv5144936, essv5041347, essv5091877, essv5104273, essv5155910, essv5061230, essv5155585, essv5068365, essv5048344, essv5025963, essv5038118, essv5060706, essv5032578, essv5027323, essv5019869, essv5007617, essv5123797, essv5158450, essv5143871, essv5036758, essv5063343, essv5089183, essv5133421
SamplesNA21403, NA21317, NA21436, NA21352, NA19819, NA21723, NA18925, NA20332, NA18510, NA19373, NA21473, NA18923, NA19404, NA21574, NA19041, NA21632, NA19226, NA21307, NA19391, NA21308, NA21583, NA19318, NA21309, NA19035, NA20773, NA21527, NA21517, NA20333, NA21580, NA19468, NA19096, NA21363, NA19044, NA19431
Known GenesSLC22A2
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)esv2421683
Frequency
Sample Size1184
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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