A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821253



Internal ID1290487
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604154
Supporting Variants
SamplesHG01133
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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