A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644346



Internal ID6684414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40355360..40358314hg38UCSC Ensembl
Innerchr19:40355367..40358307hg38UCSC Ensembl
Outerchr19:40355353..40358321hg38UCSC Ensembl
chr19:40861267..40864221hg19UCSC Ensembl
Innerchr19:40861274..40864214hg19UCSC Ensembl
Outerchr19:40861260..40864228hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382955
hg192955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054811, essv16054812
SamplesHG00613, NA18532
Known GenesPLD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644346
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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