A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426279



Internal ID14926550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7841666..7843864hg38UCSC Ensembl
Innerchr19:7842666..7842864hg38UCSC Ensembl
Outerchr19:7840666..7844864hg38UCSC Ensembl
chr19:7906552..7908750hg19UCSC Ensembl
Innerchr19:7907552..7907750hg19UCSC Ensembl
Outerchr19:7905552..7909750hg19UCSC Ensembl
chr19:7812552..7814750hg18UCSC Ensembl
Innerchr19:7813552..7813750hg18UCSC Ensembl
Outerchr19:7811552..7815750hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1986e59
Supporting Variantsessv8691687
SamplesNA19240
Known GenesEVI5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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