A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5110999



Internal ID7854857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99583036..99629556hg38UCSC Ensembl
Innerchr12:99976814..100023334hg19UCSC Ensembl
Innerchr12:98500945..98547465hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3846521
hg1946521
hg1846521
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421630
Supporting Variants
SamplesNA21362
Known GenesANKS1B
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)essv5110999
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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