A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688367



Internal ID15080814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43522926..43524024hg38UCSC Ensembl
Innerchr11:43523024..43523926hg38UCSC Ensembl
Outerchr11:43521926..43525024hg38UCSC Ensembl
chr11:43544476..43545574hg19UCSC Ensembl
Innerchr11:43544574..43545476hg19UCSC Ensembl
Outerchr11:43543476..43546574hg19UCSC Ensembl
chr11:43501052..43502150hg18UCSC Ensembl
Innerchr11:43502052..43501150hg18UCSC Ensembl
Outerchr11:43500052..43503150hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327414
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688367
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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