A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335016



Internal ID14835289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5019041..5020439hg38UCSC Ensembl
Innerchr19:5019439..5020041hg38UCSC Ensembl
Outerchr19:5018041..5021439hg38UCSC Ensembl
chr19:5019052..5020450hg19UCSC Ensembl
Innerchr19:5019450..5020052hg19UCSC Ensembl
Outerchr19:5018052..5021450hg19UCSC Ensembl
chr19:4970052..4971450hg18UCSC Ensembl
Innerchr19:4971052..4970450hg18UCSC Ensembl
Outerchr19:4969052..4972450hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691566
SamplesNA19240
Known GenesKDM4B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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