A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669528



Internal ID9588947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48758695..48761112hg38UCSC Ensembl
chr20:47375232..47377649hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382418
hg192418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5569432, essv6336634, essv5436186, essv6246735, essv6281526
SamplesHG00111, HG00353, HG00256, NA12778, NA20790
Known GenesPREX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669528
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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