A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412309



Internal ID15259268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33457906..33459104hg38UCSC Ensembl
Innerchr19:33458104..33458906hg38UCSC Ensembl
Outerchr19:33456906..33460104hg38UCSC Ensembl
chr19:33948812..33950010hg19UCSC Ensembl
Innerchr19:33949010..33949812hg19UCSC Ensembl
Outerchr19:33947812..33951010hg19UCSC Ensembl
chr19:38640652..38641850hg18UCSC Ensembl
Innerchr19:38641652..38640850hg18UCSC Ensembl
Outerchr19:38639652..38642850hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691514
SamplesNA19240
Known GenesPEPD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412309
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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