A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11788571



Internal ID6357043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2712598..2715250hg38UCSC Ensembl
Innerchr5:2712602..2715247hg38UCSC Ensembl
Outerchr5:2712595..2715254hg38UCSC Ensembl
chr5:2712712..2715364hg19UCSC Ensembl
Innerchr5:2712716..2715361hg19UCSC Ensembl
Outerchr5:2712709..2715368hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382653
hg192653
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603837
Supporting Variants
SamplesNA20287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11788571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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