A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865526



Internal ID13317902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119279494..119279503hg38UCSC Ensembl
Innerchr11:119279496..119279501hg38UCSC Ensembl
Outerchr11:119279492..119279505hg38UCSC Ensembl
chr11:119150204..119150213hg19UCSC Ensembl
Innerchr11:119150206..119150211hg19UCSC Ensembl
Outerchr11:119150202..119150215hg19UCSC Ensembl
chr11:118655414..118655423hg18UCSC Ensembl
Innerchr11:118655416..118655421hg18UCSC Ensembl
Outerchr11:118655412..118655425hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397693
Supporting Variants
SamplesNA12005
Known GenesCBL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865526
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer