A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923144



Internal ID14959121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5755589..5755623hg38UCSC Ensembl
Innerchr5:5755601..5755609hg38UCSC Ensembl
Outerchr5:5755575..5755637hg38UCSC Ensembl
chr5:5755702..5755736hg19UCSC Ensembl
Innerchr5:5755714..5755722hg19UCSC Ensembl
Outerchr5:5755688..5755750hg19UCSC Ensembl
chr5:5808702..5808736hg18UCSC Ensembl
Innerchr5:5808714..5808722hg18UCSC Ensembl
Outerchr5:5808688..5808750hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421719
Supporting Variants
SamplesNA19190
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923144
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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