A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302949



Internal ID15149897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73999049..73999188hg38UCSC Ensembl
Innerchr11:73999118..73999118hg38UCSC Ensembl
Outerchr11:73998949..73999288hg38UCSC Ensembl
chr11:73710094..73710233hg19UCSC Ensembl
Innerchr11:73710163..73710163hg19UCSC Ensembl
Outerchr11:73709994..73710333hg19UCSC Ensembl
chr11:73387742..73387881hg18UCSC Ensembl
Innerchr11:73387811..73387811hg18UCSC Ensembl
Outerchr11:73387642..73387981hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738544, essv7737560, essv7735065, essv7735210, essv7734266, essv7738699, essv7737975, essv7734382, essv7733477, essv7731841, essv7734173, essv7737989, essv7739170, essv7738645, essv7737169, essv7738285, essv7735698, essv7733801, essv7736427, essv7734994
SamplesNA12751, NA18959, NA18526, NA18510, NA12750, NA18940, NA12891, NA11992, NA18964, NA19238, NA12878, NA18566, NA12249, NA18576, NA12716, NA19240, NA07051, NA06986, NA19102, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302949
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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