A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840848



Internal ID13352593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163321366..163321367hg38UCSC Ensembl
Innerchr6:163321349..163321384hg38UCSC Ensembl
Outerchr6:163321348..163321385hg38UCSC Ensembl
chr6:163742398..163742399hg19UCSC Ensembl
Innerchr6:163742381..163742416hg19UCSC Ensembl
Outerchr6:163742380..163742417hg19UCSC Ensembl
chr6:163662388..163662389hg18UCSC Ensembl
Innerchr6:163662406..163662371hg18UCSC Ensembl
Outerchr6:163662370..163662407hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308672
Supporting Variants
SamplesNA12891
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840848
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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