A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310060



Internal ID15157011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122182845..122182846hg38UCSC Ensembl
Innerchr11:122182826..122182865hg38UCSC Ensembl
Outerchr11:122182825..122182866hg38UCSC Ensembl
chr11:122053553..122053554hg19UCSC Ensembl
Innerchr11:122053534..122053573hg19UCSC Ensembl
Outerchr11:122053533..122053574hg19UCSC Ensembl
chr11:121558763..121558764hg18UCSC Ensembl
Innerchr11:121558783..121558744hg18UCSC Ensembl
Outerchr11:121558743..121558784hg18UCSC Ensembl
Cytoband11q24.1
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 Variantsessv7839813, essv7840896
SamplesNA12891, NA12878
Known GenesMIR100HG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310060
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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