A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643837



Internal ID7030594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18345148..18347811hg38UCSC Ensembl
Innerchr19:18345148..18347811hg38UCSC Ensembl
Outerchr19:18344968..18347978hg38UCSC Ensembl
chr19:18455958..18458621hg19UCSC Ensembl
Innerchr19:18455958..18458621hg19UCSC Ensembl
Outerchr19:18455778..18458788hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382664
hg192664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003942
SamplesHG02144
Known GenesPGPEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer