A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304104



Internal ID14804366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163321371..163321372hg38UCSC Ensembl
Innerchr6:163321339..163321404hg38UCSC Ensembl
Outerchr6:163321338..163321405hg38UCSC Ensembl
chr6:163742403..163742404hg19UCSC Ensembl
Innerchr6:163742371..163742436hg19UCSC Ensembl
Outerchr6:163742370..163742437hg19UCSC Ensembl
chr6:163662393..163662394hg18UCSC Ensembl
Innerchr6:163662426..163662361hg18UCSC Ensembl
Outerchr6:163662360..163662427hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752941, essv7742430, essv7762720, essv7741114, essv7752258, essv7761730, essv7745021, essv7760829, essv7746160, essv7759980, essv7745519
SamplesNA18520, NA18501, NA18570, NA18517, NA18505, NA19147, NA18547, NA06986, NA19238, NA18552, NA19240
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304104
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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