A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611493



Internal ID6651711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162144962..162226691hg38UCSC Ensembl
Innerchr6:162144981..162226673hg38UCSC Ensembl
Outerchr6:162144944..162226710hg38UCSC Ensembl
chr6:162565994..162647723hg19UCSC Ensembl
Innerchr6:162566013..162647705hg19UCSC Ensembl
Outerchr6:162565976..162647742hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3881730
hg1981730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12620276, essv12620278, essv12620277
SamplesHG03717, HG03740, NA19059
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611493
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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