A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394359



Internal ID15241324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:24408910..24448980hg38UCSC Ensembl
Innerchr19:24409910..24448008hg38UCSC Ensembl
Outerchr19:24407910..24448980hg38UCSC Ensembl
chr19:24591712..24631782hg19UCSC Ensembl
Innerchr19:24592712..24630810hg19UCSC Ensembl
Outerchr19:24590712..24631782hg19UCSC Ensembl
chr19:24383552..24423650hg18UCSC Ensembl
Innerchr19:24384552..24422650hg18UCSC Ensembl
Outerchr19:24382552..24424650hg18UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg3840071
hg1940071
hg1840099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1996e59
Supporting Variantsessv8691444
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394359
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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