A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643514



Internal ID6683585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4850463..4858673hg38UCSC Ensembl
Innerchr19:4850963..4858173hg38UCSC Ensembl
Outerchr19:4849463..4859673hg38UCSC Ensembl
chr19:4850475..4858685hg19UCSC Ensembl
Innerchr19:4850975..4858185hg19UCSC Ensembl
Outerchr19:4849475..4859685hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388211
hg198211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15982250, essv15982251
SamplesNA19308, HG02281
Known GenesPLIN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643514
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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