A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5853223



Internal ID8830626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54051832..54059132hg38UCSC Ensembl
chr19:54555086..54562386hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387301
hg197301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671970
Supporting Variants
SamplesHG00254
Known GenesVSTM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5853223
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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