A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5042445



Internal ID8189004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100950673..100954382hg38UCSC Ensembl
Innerchr3:100669517..100673226hg19UCSC Ensembl
Innerchr3:102152207..102155916hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422136
Supporting Variants
SamplesNA19708
Known GenesABI3BP
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)essv5042445
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer