A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695096



Internal ID13643671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166783774..166784172hg38UCSC Ensembl
Innerchr6:166783773..166784173hg38UCSC Ensembl
Outerchr6:166782774..166785172hg38UCSC Ensembl
chr6:167197262..167197660hg19UCSC Ensembl
Innerchr6:167197261..167197661hg19UCSC Ensembl
Outerchr6:167196262..167198660hg19UCSC Ensembl
chr6:167117252..167117650hg18UCSC Ensembl
Innerchr6:167117651..167117251hg18UCSC Ensembl
Outerchr6:167116252..167118650hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431830
Supporting Variants
SamplesNA12878
Known GenesRPS6KA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695096
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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