A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv794e199



Internal ID22758567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53468979..53473670hg38UCSC Ensembl
chr20:52085518..52090209hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384692
hg194692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674830, esv2661793
SamplesHG00650
Known GenesTSHZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv794e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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