A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410221



Internal ID14910495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19568043..19569041hg38UCSC Ensembl
Innerchr19:19568042..19569042hg38UCSC Ensembl
Outerchr19:19567043..19570041hg38UCSC Ensembl
chr19:19678852..19679850hg19UCSC Ensembl
Innerchr19:19678851..19679851hg19UCSC Ensembl
Outerchr19:19677852..19680850hg19UCSC Ensembl
chr19:19539852..19540850hg18UCSC Ensembl
Innerchr19:19540851..19539851hg18UCSC Ensembl
Outerchr19:19538852..19541850hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691420
SamplesNA19239
Known GenesPBX4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410221
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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