A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695123



Internal ID15090620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168714290..168716186hg38UCSC Ensembl
Innerchr6:168715095..168715297hg38UCSC Ensembl
Outerchr6:168713291..168717186hg38UCSC Ensembl
chr6:169114527..169116325hg19UCSC Ensembl
Innerchr6:169115325..169115527hg19UCSC Ensembl
Outerchr6:169113527..169117325hg19UCSC Ensembl
chr6:168856452..168858250hg18UCSC Ensembl
Innerchr6:168857452..168857250hg18UCSC Ensembl
Outerchr6:168855452..168859250hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381897
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440511
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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