A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694632



Internal ID15013475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16635443..16636341hg38UCSC Ensembl
Innerchr5:16635442..16636342hg38UCSC Ensembl
Outerchr5:16634443..16637341hg38UCSC Ensembl
chr5:16635552..16636450hg19UCSC Ensembl
Innerchr5:16635551..16636451hg19UCSC Ensembl
Outerchr5:16634552..16637450hg19UCSC Ensembl
chr5:16688552..16689450hg18UCSC Ensembl
Innerchr5:16689451..16688551hg18UCSC Ensembl
Outerchr5:16687552..16690450hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413559
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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