A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5010189



Internal ID8120559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13079926..13177644hg38UCSC Ensembl
Innerchr21:14452247..14549965hg19UCSC Ensembl
Innerchr21:13374118..13471836hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3897719
hg1997719
hg1897719
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421799
Supporting Variants
SamplesNA18138
Known GenesANKRD30BP2
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)essv5010189
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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