A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676038



Internal ID15016565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:85291964..85292050hg38UCSC Ensembl
Innerchr5:85291969..85292042hg38UCSC Ensembl
Outerchr5:85291883..85292131hg38UCSC Ensembl
chr5:84587782..84587868hg19UCSC Ensembl
Innerchr5:84587787..84587860hg19UCSC Ensembl
Outerchr5:84587701..84587949hg19UCSC Ensembl
chr5:84623538..84623624hg18UCSC Ensembl
Innerchr5:84623616..84623543hg18UCSC Ensembl
Outerchr5:84623457..84623705hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401796
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676038
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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