A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670154



Internal ID9936259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62848775..62849600hg38UCSC Ensembl
chr20:61480127..61480952hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5808818, essv5724463
SamplesHG00239, NA19780
Known GenesTCFL5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670154
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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