A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676290



Internal ID14671399
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 StatusS
Merged Variantsesv3428886
Supporting Variants
SamplesNA19238
Known GenesPARK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676290
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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