A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356717



Internal ID14856980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131454715..131454773hg38UCSC Ensembl
Innerchr11:131454718..131454768hg38UCSC Ensembl
Outerchr11:131454660..131454828hg38UCSC Ensembl
chr11:131324609..131324667hg19UCSC Ensembl
Innerchr11:131324612..131324662hg19UCSC Ensembl
Outerchr11:131324554..131324722hg19UCSC Ensembl
chr11:130829819..130829877hg18UCSC Ensembl
Innerchr11:130829872..130829822hg18UCSC Ensembl
Outerchr11:130829764..130829932hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8955155, essv8955153, essv8955156, essv8955157, essv8955154
SamplesNA10847, NA07051, NA12716, NA11829, NA07000
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356717
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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