A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691656



Internal ID15029883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58591673..58595771hg38UCSC Ensembl
Innerchr19:58592673..58594771hg38UCSC Ensembl
Outerchr19:58590673..58596771hg38UCSC Ensembl
chr19:59103040..59107138hg19UCSC Ensembl
Innerchr19:59104040..59106138hg19UCSC Ensembl
Outerchr19:59102040..59108138hg19UCSC Ensembl
chr19:63794852..63798950hg18UCSC Ensembl
Innerchr19:63795852..63797950hg18UCSC Ensembl
Outerchr19:63793852..63799950hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3398154
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691656
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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