A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12124760



Internal ID3949415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166891392..166902507hg38UCSC Ensembl
Innerchr5:166891415..166902485hg38UCSC Ensembl
Outerchr5:166891370..166902530hg38UCSC Ensembl
chr5:166318397..166329512hg19UCSC Ensembl
Innerchr5:166318420..166329490hg19UCSC Ensembl
Outerchr5:166318375..166329535hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3811116
hg1911116
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607511
Supporting Variants
SamplesHG03600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12124760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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