A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644572



Internal ID6684639
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071384, essv16071385, essv16071386
SamplesNA19445, HG01967, NA19439
Known GenesPLA2G4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644572
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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