A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308142



Internal ID14808404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161950958..161950959hg38UCSC Ensembl
Innerchr6:161950897..161951020hg38UCSC Ensembl
Outerchr6:161950896..161951021hg38UCSC Ensembl
chr6:162371990..162371991hg19UCSC Ensembl
Innerchr6:162371929..162372052hg19UCSC Ensembl
Outerchr6:162371928..162372053hg19UCSC Ensembl
chr6:162291980..162291981hg18UCSC Ensembl
Innerchr6:162292042..162291919hg18UCSC Ensembl
Outerchr6:162291918..162292043hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381219
hg191219
hg181219
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838946, essv7837025
SamplesNA19239, NA19238
Known GenesPARK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308142
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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