A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421863



Internal ID8252311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39907809..39920951hg38UCSC Ensembl
Innerchr12:40301611..40314753hg19UCSC Ensembl
Innerchr12:38587878..38601020hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813143
hg1913143
hg1813143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5046921, essv5152759, essv5089686, essv5055038, essv5160274, essv5012339, essv5052713, essv5075134, essv5034038, essv5028905, essv5073315, essv5110138, essv5115586
SamplesNA19198, NA20317, NA19317, NA19226, NA18867, NA19179, NA19114, NA19452, NA19206, NA19435, NA18869, NA18505, NA19044
Known GenesSLC2A13
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)esv2421863
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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