A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421626



Internal ID8252074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143762042..143949533hg38UCSC Ensembl
Innerchr1:149256691..149444104hg19UCSC Ensembl
Innerchr1:147523315..147710728hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38187492
hg19187414
hg18187414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5085349, essv5087029, essv5109064, essv5042347, essv5119211, essv5045941, essv5102155, essv5131411, essv5061438, essv5084415, essv5070523, essv5126850, essv5069989, essv5026867, essv5146732
SamplesNA20882, NA20543, NA20899, NA20805, NA20892, NA20506, NA20875, NA11839, NA11840, NA19750, NA19099, NA06985, NA18978, NA19434, NA12775
Known GenesFCGR1C, LOC388692
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)esv2421626
Frequency
Sample Size1184
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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