A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308672



Internal ID14808935
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 StatusM
Merged Variants
Supporting Variantsessv7840848, essv7841787, essv7839969, essv7843341, essv7841155, essv7842618
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308672
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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