A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421630



Internal ID7905392
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5111000, essv5011309, essv5082542, essv5073007, essv5093804, essv5059959, essv5068353, essv5008880, essv5109604, essv5110999, essv5035436, essv5080040, essv5129061, essv5160007, essv5103577, essv5004763, essv5046853, essv5029301, essv5086333
SamplesNA21353, NA21390, NA21631, NA21371, NA18546, NA21361, NA21686, NA21421, NA21359, NA21683, NA21352, NA21738, NA21311, NA21527, NA21616, NA21360, NA21362, NA19315, NA21526
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)esv2421630
Frequency
Sample Size1184
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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