A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421746



Internal ID8252194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61972200..61984863hg38UCSC Ensembl
Innerchr1:62437872..62450535hg19UCSC Ensembl
Innerchr1:62210460..62223123hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3812664
hg1912664
hg1812664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5152829, essv5069978, essv5159581, essv5093878, essv5123089, essv5077911, essv5130823, essv5044846, essv5071831, essv5041711, essv5050581, essv5119967, essv5109065, essv5035069, essv5111807
SamplesNA21403, NA19258, NA19222, NA19203, NA18861, NA19192, NA19130, NA19221, NA19118, NA19132, NA19834, NA19108, NA19256, NA18517, NA21404
Known GenesINADL
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)esv2421746
Frequency
Sample Size1184
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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