A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688435



Internal ID13347276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:530452..531250hg38UCSC Ensembl
Innerchr11:530451..531251hg38UCSC Ensembl
Outerchr11:529452..532250hg38UCSC Ensembl
chr11:530452..531250hg19UCSC Ensembl
Innerchr11:530451..531251hg19UCSC Ensembl
Outerchr11:529452..532250hg19UCSC Ensembl
chr11:520452..521250hg18UCSC Ensembl
Innerchr11:521251..520451hg18UCSC Ensembl
Outerchr11:519452..522250hg18UCSC 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 Variantsesv3432176
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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