A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821240



Internal ID4753548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17000296..17011933hg38UCSC Ensembl
chr5:17000405..17012042hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3811638
hg1911638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604147
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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