A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676194



Internal ID13378427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129507079..129507089hg38UCSC Ensembl
Innerchr6:129507075..129507091hg38UCSC Ensembl
Outerchr6:129507067..129507101hg38UCSC Ensembl
chr6:129828224..129828234hg19UCSC Ensembl
Innerchr6:129828220..129828236hg19UCSC Ensembl
Outerchr6:129828212..129828246hg19UCSC Ensembl
chr6:129869917..129869927hg18UCSC Ensembl
Innerchr6:129869929..129869913hg18UCSC Ensembl
Outerchr6:129869905..129869939hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357656
Supporting Variants
SamplesNA12892
Known GenesLAMA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676194
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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