A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14748006



Internal ID1062475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:57475437..57583714hg38UCSC Ensembl
chr13:58049571..58157848hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38108278
hg19108278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632241
Supporting Variants
SamplesHG00689
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14748006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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