A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421963



Internal ID8252412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44392234..44434616hg38UCSC Ensembl
Innerchr19:44896398..44938791hg19UCSC Ensembl
Innerchr19:49588238..49630631hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3842383
hg1942394
hg1842394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5007261, essv5044448, essv5033065, essv5083503, essv5126714, essv5120107, essv5111706, essv5039707, essv5060072, essv5030032, essv5035896, essv5106399, essv5152211
SamplesNA18935, NA19315, NA18860, NA18874, NA19159, NA21387, NA18933, NA18875, NA18858, NA21336, NA20345, NA21389, NA20322
Known GenesZNF229, ZNF285
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)esv2421963
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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