A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400487



Internal ID15247450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129158695..129158695hg38UCSC Ensembl
Innerchr6:129158694..129158696hg38UCSC Ensembl
Outerchr6:129158645..129158745hg38UCSC Ensembl
chr6:129479840..129479840hg19UCSC Ensembl
Innerchr6:129479839..129479841hg19UCSC Ensembl
Outerchr6:129479790..129479890hg19UCSC Ensembl
chr6:129521533..129521533hg18UCSC Ensembl
Innerchr6:129521534..129521532hg18UCSC Ensembl
Outerchr6:129521483..129521583hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653436, essv8653438, essv8653437
SamplesNA12891, NA12878, NA12892
Known GenesLAMA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400487
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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