A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11819643



Internal ID2972003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16293653..16306360hg38UCSC Ensembl
Innerchr5:16293664..16306349hg38UCSC Ensembl
Outerchr5:16293642..16306371hg38UCSC Ensembl
chr5:16293762..16306469hg19UCSC Ensembl
Innerchr5:16293773..16306458hg19UCSC Ensembl
Outerchr5:16293751..16306480hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3812708
hg1912708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604127
Supporting Variants
SamplesHG02623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11819643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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