A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695011



Internal ID15089326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106010684..106012682hg38UCSC Ensembl
Innerchr6:106011682..106011684hg38UCSC Ensembl
Outerchr6:106009684..106013682hg38UCSC Ensembl
chr6:106458559..106460557hg19UCSC Ensembl
Innerchr6:106459557..106459559hg19UCSC Ensembl
Outerchr6:106457559..106461557hg19UCSC Ensembl
chr6:106565252..106567250hg18UCSC Ensembl
Innerchr6:106566252..106566250hg18UCSC Ensembl
Outerchr6:106564252..106568250hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444163
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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