A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442499



Internal ID14942766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:519152..520350hg38UCSC Ensembl
Innerchr11:519350..520152hg38UCSC Ensembl
Outerchr11:518152..521350hg38UCSC Ensembl
chr11:519152..520350hg19UCSC Ensembl
Innerchr11:519350..520152hg19UCSC Ensembl
Outerchr11:518152..521350hg19UCSC Ensembl
chr11:509152..510350hg18UCSC Ensembl
Innerchr11:510152..509350hg18UCSC Ensembl
Outerchr11:508152..511350hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541e59
Supporting Variantsessv8688425
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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