A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695099



Internal ID14704155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166929974..166931172hg38UCSC Ensembl
Innerchr6:166930172..166930974hg38UCSC Ensembl
Outerchr6:166928974..166932172hg38UCSC Ensembl
chr6:167343462..167344660hg19UCSC Ensembl
Innerchr6:167343660..167344462hg19UCSC Ensembl
Outerchr6:167342462..167345660hg19UCSC Ensembl
chr6:167263452..167264650hg18UCSC Ensembl
Innerchr6:167264452..167263650hg18UCSC Ensembl
Outerchr6:167262452..167265650hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432200
Supporting Variants
SamplesNA19239
Known GenesRNASET2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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