A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5054433



Internal ID8200237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431402..210440272hg38UCSC Ensembl
Innerchr1:210604746..210613616hg19UCSC Ensembl
Innerchr1:208671369..208680239hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388871
hg198871
hg188871
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421437
Supporting Variants
SamplesNA20288
Known GenesHHAT
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)essv5054433
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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