A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731103



Internal ID13353883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118947884..118948021hg38UCSC Ensembl
Innerchr11:118947952..118947953hg38UCSC Ensembl
Outerchr11:118947784..118948121hg38UCSC Ensembl
chr11:118818594..118818731hg19UCSC Ensembl
Innerchr11:118818662..118818663hg19UCSC Ensembl
Outerchr11:118818494..118818831hg19UCSC Ensembl
chr11:118323804..118323941hg18UCSC Ensembl
Innerchr11:118323873..118323872hg18UCSC Ensembl
Outerchr11:118323704..118324041hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302690
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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