A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413545



Internal ID15260504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47228655..47230153hg38UCSC Ensembl
Innerchr19:47229153..47229655hg38UCSC Ensembl
Outerchr19:47227655..47231153hg38UCSC Ensembl
chr19:47731912..47733410hg19UCSC Ensembl
Innerchr19:47732410..47732912hg19UCSC Ensembl
Outerchr19:47730912..47734410hg19UCSC Ensembl
chr19:52423752..52425250hg18UCSC Ensembl
Innerchr19:52424752..52424250hg18UCSC Ensembl
Outerchr19:52422752..52426250hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691573
SamplesNA19240
Known GenesBBC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413545
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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