A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695124



Internal ID15050965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168714397..168715786hg38UCSC Ensembl
Innerchr6:168714695..168715397hg38UCSC Ensembl
Outerchr6:168713391..168716786hg38UCSC Ensembl
chr6:169114627..169115925hg19UCSC Ensembl
Innerchr6:169114925..169115627hg19UCSC Ensembl
Outerchr6:169113627..169116925hg19UCSC Ensembl
chr6:168856552..168857850hg18UCSC Ensembl
Innerchr6:168857552..168856850hg18UCSC Ensembl
Outerchr6:168855552..168858850hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381390
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447644
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695124
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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