A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308860



Internal ID14809123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129507077..129507078hg38UCSC Ensembl
Innerchr6:129507061..129507094hg38UCSC Ensembl
Outerchr6:129507060..129507095hg38UCSC Ensembl
chr6:129828222..129828223hg19UCSC Ensembl
Innerchr6:129828206..129828239hg19UCSC Ensembl
Outerchr6:129828205..129828240hg19UCSC Ensembl
chr6:129869915..129869916hg18UCSC Ensembl
Innerchr6:129869932..129869899hg18UCSC Ensembl
Outerchr6:129869898..129869933hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841032, essv7839816, essv7842159, essv7842970
SamplesNA19239, NA12878, NA12892, NA19240
Known GenesLAMA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308860
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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