A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11825108



Internal ID5987789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17960565..17993000hg38UCSC Ensembl
Innerchr5:17960569..17992996hg38UCSC Ensembl
Outerchr5:17960561..17993004hg38UCSC Ensembl
chr5:17960674..17993109hg19UCSC Ensembl
Innerchr5:17960678..17993105hg19UCSC Ensembl
Outerchr5:17960670..17993113hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3832436
hg1932436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604221
Supporting Variants
SamplesNA19393
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11825108
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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