A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251117



Internal ID1252933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181001654..181009931hg38UCSC Ensembl
chr3:180719442..180727719hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg388278
hg198278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598880
Supporting Variants
SamplesHG02323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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