A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676296



Internal ID14671435
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 StatusS
Merged Variantsesv3374330
Supporting Variants
SamplesNA19238
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676296
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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