A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071387



Internal ID6073203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48058053..48063184hg38UCSC Ensembl
chr19:48561310..48566441hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385132
hg195132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644573
Supporting Variants
SamplesHG01967
Known GenesPLA2G4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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