A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333985



Internal ID14834258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31990996..32007795hg38UCSC Ensembl
Innerchr6:31991996..32006795hg38UCSC Ensembl
Outerchr6:31989996..32008795hg38UCSC Ensembl
chr6:31958773..31975572hg19UCSC Ensembl
Innerchr6:31959773..31974572hg19UCSC Ensembl
Outerchr6:31957773..31976572hg19UCSC Ensembl
chr6:32066752..32083550hg18UCSC Ensembl
Innerchr6:32067752..32082550hg18UCSC Ensembl
Outerchr6:32065752..32084550hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3816800
hg1916800
hg1816799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695249
SamplesNA19240
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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