A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688495



Internal ID15044263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76952..80050hg38UCSC Ensembl
Innerchr11:77952..79050hg38UCSC Ensembl
Outerchr11:75952..81050hg38UCSC Ensembl
chr11:76952..80050hg19UCSC Ensembl
Innerchr11:77952..79050hg19UCSC Ensembl
Outerchr11:75952..81050hg19UCSC Ensembl
chr11:66952..70050hg18UCSC Ensembl
Innerchr11:67952..69050hg18UCSC Ensembl
Outerchr11:65952..71050hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423178
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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