A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071384



Internal ID6073200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48054511..48063324hg38UCSC Ensembl
Innerchr19:48054661..48063174hg38UCSC Ensembl
Outerchr19:48054361..48063474hg38UCSC Ensembl
chr19:48557768..48566581hg19UCSC Ensembl
Innerchr19:48557918..48566431hg19UCSC Ensembl
Outerchr19:48557618..48566731hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg388814
hg198814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644572
Supporting Variants
SamplesHG01967
Known GenesPLA2G4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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