A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838946



Internal ID14661184
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 StatusS
Merged Variantsesv3308142
Supporting Variants
SamplesNA19238
Known GenesPARK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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