A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421550



Internal ID8251998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196851447..196932623hg38UCSC Ensembl
Innerchr1:196820577..196901753hg19UCSC Ensembl
Innerchr1:195087200..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3881177
hg1981177
hg1881177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5159074, essv5154797, essv5069719, essv5140047, essv5034344, essv5107632, essv5043455, essv5080009, essv5112437, essv5129728, essv5104759, essv5032833, essv5016553, essv5048469, essv5012300, essv5128782, essv5101852, essv5103147, essv5076533, essv5131800, essv5141110, essv5153192, essv5030819, essv5070649, essv5021513, essv5151218, essv5146518, essv5136955, essv5004947, essv5044896, essv5114871, essv5121031, essv5019383, essv5022129, essv5041413, essv5089723, essv5139763, essv5063849, essv5031936, essv5079056
SamplesNA18745, NA21099, NA19704, NA18124, NA18870, NA18526, NA19446, NA19068, NA18563, NA18597, NA18489, NA19131, NA21297, NA18642, NA19130, NA19038, NA18611, NA19215, NA20340, NA19665, NA19456, NA18956, NA19663, NA18503, NA20876, NA19151, NA17965, NA18634, NA19308, NA19256, NA19149, NA21123, NA19428, NA21094, NA20888, NA17995, NA20582, NA19213, NA18872, NA18505
Known GenesCFHR4
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)esv2421550
Frequency
Sample Size1184
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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