A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428886



Internal ID14929156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161950980..161951022hg38UCSC Ensembl
Innerchr6:161950978..161951021hg38UCSC Ensembl
Outerchr6:161950936..161951063hg38UCSC Ensembl
chr6:162372012..162372054hg19UCSC Ensembl
Innerchr6:162372010..162372053hg19UCSC Ensembl
Outerchr6:162371968..162372095hg19UCSC Ensembl
chr6:162292002..162292044hg18UCSC Ensembl
Innerchr6:162292043..162292000hg18UCSC Ensembl
Outerchr6:162291958..162292085hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381219
hg191219
hg181219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676290, essv8676291
SamplesNA19239, NA19238
Known GenesPARK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428886
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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