A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818190



Internal ID1075811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14527989..14534124hg38UCSC Ensembl
Innerchr5:14527989..14534124hg38UCSC Ensembl
Outerchr5:14527773..14534338hg38UCSC Ensembl
chr5:14528098..14534233hg19UCSC Ensembl
Innerchr5:14528098..14534233hg19UCSC Ensembl
Outerchr5:14527882..14534447hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg386136
hg196136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604089
Supporting Variants
SamplesHG00699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818190
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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