A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5052984



Internal ID7796842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72053111..72074194hg38UCSC Ensembl
Innerchr16:72087010..72108093hg19UCSC Ensembl
Innerchr16:70644511..70665594hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3821084
hg1921084
hg1821084
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422047
Supporting Variants
SamplesNA19240
Known GenesHP, HPR
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)essv5052984
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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