A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6289974



Internal ID9267377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45906708..45907144hg38UCSC Ensembl
chr20:44535347..44535783hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658653
Supporting Variants
SamplesHG00330
Known GenesPLTP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6289974
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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