A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5715430



Internal ID8692833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57660496..57660829hg38UCSC Ensembl
chr20:56235552..56235885hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672997
Supporting Variants
SamplesNA19700
Known GenesPMEPA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5715430
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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