A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5415246



Internal ID8392649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46464093..46464328hg38UCSC Ensembl
chr13:47038228..47038463hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676825
Supporting Variants
SamplesHG00339
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5415246
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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