A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11851619



Internal ID2684034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28640392..28728547hg38UCSC Ensembl
Innerchr5:28640892..28728047hg38UCSC Ensembl
Outerchr5:28639392..28729547hg38UCSC Ensembl
chr5:28640499..28728654hg19UCSC Ensembl
Innerchr5:28640999..28728154hg19UCSC Ensembl
Outerchr5:28639499..28729654hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3888156
hg1988156
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604514
Supporting Variants
SamplesHG02379
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11851619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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