A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865444



Internal ID12971130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12333363..12333370hg38UCSC Ensembl
Innerchr11:12333347..12333386hg38UCSC Ensembl
Outerchr11:12333340..12333393hg38UCSC Ensembl
chr11:12354910..12354917hg19UCSC Ensembl
Innerchr11:12354894..12354933hg19UCSC Ensembl
Outerchr11:12354887..12354940hg19UCSC Ensembl
chr11:12311486..12311493hg18UCSC Ensembl
Innerchr11:12311509..12311470hg18UCSC Ensembl
Outerchr11:12311463..12311516hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350761
Supporting Variants
SamplesNA12005
Known GenesMICALCL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865444
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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