A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794554



Internal ID1014676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4388679..4399112hg38UCSC Ensembl
Innerchr5:4389179..4398612hg38UCSC Ensembl
Outerchr5:4387679..4400112hg38UCSC Ensembl
chr5:4388792..4399225hg19UCSC Ensembl
Innerchr5:4389292..4398725hg19UCSC Ensembl
Outerchr5:4387792..4400225hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3810434
hg1910434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603875
Supporting Variants
SamplesHG00634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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