A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818327



Internal ID5985567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14540670..14541694hg38UCSC Ensembl
Innerchr5:14540671..14541694hg38UCSC Ensembl
Outerchr5:14540670..14541695hg38UCSC Ensembl
chr5:14540779..14541803hg19UCSC Ensembl
Innerchr5:14540780..14541803hg19UCSC Ensembl
Outerchr5:14540779..14541804hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604092
Supporting Variants
SamplesNA19391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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