A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841836



Internal ID15083381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150978305..150978306hg38UCSC Ensembl
Innerchr5:150978288..150978323hg38UCSC Ensembl
Outerchr5:150978287..150978324hg38UCSC Ensembl
chr5:150357867..150357868hg19UCSC Ensembl
Innerchr5:150357850..150357885hg19UCSC Ensembl
Outerchr5:150357849..150357886hg19UCSC Ensembl
chr5:150338060..150338061hg18UCSC Ensembl
Innerchr5:150338078..150338043hg18UCSC Ensembl
Outerchr5:150338042..150338079hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310277
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841836
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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