A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054811



Internal ID6056627
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644346
Supporting Variants
SamplesHG00613
Known GenesPLD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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