A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688493



Internal ID15044293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:664352..665150hg38UCSC Ensembl
Innerchr11:664351..665151hg38UCSC Ensembl
Outerchr11:663352..666150hg38UCSC Ensembl
chr11:664352..665150hg19UCSC Ensembl
Innerchr11:664351..665151hg19UCSC Ensembl
Outerchr11:663352..666150hg19UCSC Ensembl
chr11:654352..655150hg18UCSC Ensembl
Innerchr11:655151..654351hg18UCSC Ensembl
Outerchr11:653352..656150hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363507
Supporting Variants
SamplesNA19239
Known GenesDEAF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688493
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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