A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675905



Internal ID15088136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32925537..32925550hg38UCSC Ensembl
Innerchr5:32925529..32925558hg38UCSC Ensembl
Outerchr5:32925516..32925571hg38UCSC Ensembl
chr5:32925643..32925656hg19UCSC Ensembl
Innerchr5:32925635..32925664hg19UCSC Ensembl
Outerchr5:32925622..32925677hg19UCSC Ensembl
chr5:32961400..32961413hg18UCSC Ensembl
Innerchr5:32961421..32961392hg18UCSC Ensembl
Outerchr5:32961379..32961434hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399771
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675905
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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