A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10478n54



Internal ID20143902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32008352..32022321hg38UCSC Ensembl
chr6:31976129..31990098hg19UCSC Ensembl
chr6:32084107..32098076hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3813970
hg1913970
hg1813970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602062, nsv602061, nsv602063
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10478n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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