A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5085059



Internal ID8236233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:91440621..91443389hg38UCSC Ensembl
Innerchr10:93200378..93203146hg19UCSC Ensembl
Innerchr10:93190358..93193126hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg382769
hg192769
hg182769
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421381
Supporting Variants
SamplesNA21408
Known GenesHECTD2, LOC100188947
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)essv5085059
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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