A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5055700



Internal ID8158305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:31059931..31061985hg38UCSC Ensembl
Innerchr21:32432250..32434304hg19UCSC Ensembl
Innerchr21:31354121..31356175hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422094
Supporting Variants
SamplesNA19101
Known Genes
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)essv5055700
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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