A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604154



Internal ID6991184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17098184..17100101hg38UCSC Ensembl
Innerchr5:17098184..17100101hg38UCSC Ensembl
Outerchr5:17098019..17100228hg38UCSC Ensembl
chr5:17098293..17100210hg19UCSC Ensembl
Innerchr5:17098293..17100210hg19UCSC Ensembl
Outerchr5:17098128..17100337hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381918
hg191918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11821253, essv11821254
SamplesHG01133, NA19312
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604154
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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