A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688196



Internal ID14732470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126436747..126438145hg38UCSC Ensembl
Innerchr11:126437145..126437747hg38UCSC Ensembl
Outerchr11:126435747..126439145hg38UCSC Ensembl
chr11:126306642..126308040hg19UCSC Ensembl
Innerchr11:126307040..126307642hg19UCSC Ensembl
Outerchr11:126305642..126309040hg19UCSC Ensembl
chr11:125811852..125813250hg18UCSC Ensembl
Innerchr11:125812852..125812250hg18UCSC Ensembl
Outerchr11:125810852..125814250hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428191
Supporting Variants
SamplesNA19240
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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