A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv792e199



Internal ID20124094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48125424..48515207hg38UCSC Ensembl
chr20:46754167..47131745hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38389784
hg19377579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661986, esv2674669, esv2665375, esv2666538
SamplesNA18595, NA20771, NA18603, HG00475, NA18546, HG00335, NA18622, NA18592, NA18502, NA18582, NA20799, NA12003, NA19346, NA20768, NA20528, NA18853, HG00442, NA18519
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv792e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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