A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670512



Internal ID15097520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62143059..62143197hg38UCSC Ensembl
Innerchr11:62143066..62143190hg38UCSC Ensembl
Outerchr11:62143052..62143204hg38UCSC Ensembl
chr11:61910531..61910669hg19UCSC Ensembl
Innerchr11:61910538..61910662hg19UCSC Ensembl
Outerchr11:61910524..61910676hg19UCSC Ensembl
chr11:61667107..61667245hg18UCSC Ensembl
Innerchr11:61667114..61667238hg18UCSC Ensembl
Outerchr11:61667100..61667252hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3404378
Supporting Variants
SamplesNA19240
Known GenesINCENP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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