A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5917033



Internal ID8730640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50827242..50830636hg38UCSC Ensembl
chr19:51330498..51333892hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662649
Supporting Variants
SamplesHG00117
Known GenesKLK15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5917033
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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