A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695251



Internal ID14745310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32008397..32017395hg38UCSC Ensembl
Innerchr6:32009397..32016395hg38UCSC Ensembl
Outerchr6:32007397..32018395hg38UCSC Ensembl
chr6:31976174..31985172hg19UCSC Ensembl
Innerchr6:31977174..31984172hg19UCSC Ensembl
Outerchr6:31975174..31986172hg19UCSC Ensembl
chr6:32084152..32093150hg18UCSC Ensembl
Innerchr6:32085152..32092150hg18UCSC Ensembl
Outerchr6:32083152..32094150hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3413736
Supporting Variants
SamplesNA19240
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695251
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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