A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307194



Internal ID15154142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13922591..13922592hg38UCSC Ensembl
Innerchr11:13922498..13922685hg38UCSC Ensembl
Outerchr11:13922497..13922686hg38UCSC Ensembl
chr11:13944138..13944139hg19UCSC Ensembl
Innerchr11:13944045..13944232hg19UCSC Ensembl
Outerchr11:13944044..13944233hg19UCSC Ensembl
chr11:13900714..13900715hg18UCSC Ensembl
Innerchr11:13900808..13900621hg18UCSC Ensembl
Outerchr11:13900620..13900809hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg385988
hg195988
hg185988
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741296, essv7742138, essv7754142
SamplesNA18519, NA19210, NA18853
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307194
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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