A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361943



Internal ID14862204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7841866..7843964hg38UCSC Ensembl
Innerchr19:7842866..7842964hg38UCSC Ensembl
Outerchr19:7840866..7844964hg38UCSC Ensembl
chr19:7906752..7908850hg19UCSC Ensembl
Innerchr19:7907752..7907850hg19UCSC Ensembl
Outerchr19:7905752..7909850hg19UCSC Ensembl
chr19:7812752..7814850hg18UCSC Ensembl
Innerchr19:7813752..7813850hg18UCSC Ensembl
Outerchr19:7811752..7815850hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1986e59
Supporting Variantsessv8691690
SamplesNA12891
Known GenesEVI5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361943
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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