A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374330



Internal ID14874592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163321369..163321379hg38UCSC Ensembl
Innerchr6:163321361..163321385hg38UCSC Ensembl
Outerchr6:163321351..163321397hg38UCSC Ensembl
chr6:163742401..163742411hg19UCSC Ensembl
Innerchr6:163742393..163742417hg19UCSC Ensembl
Outerchr6:163742383..163742429hg19UCSC Ensembl
chr6:163662391..163662401hg18UCSC Ensembl
Innerchr6:163662407..163662383hg18UCSC Ensembl
Outerchr6:163662373..163662419hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676296, essv8676297
SamplesNA19238, NA19240
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374330
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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