A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8922994



Internal ID13905950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3509698..3509718hg38UCSC Ensembl
Innerchr5:3509697..3509716hg38UCSC Ensembl
Outerchr5:3509680..3509736hg38UCSC Ensembl
chr5:3509812..3509832hg19UCSC Ensembl
Innerchr5:3509811..3509830hg19UCSC Ensembl
Outerchr5:3509794..3509850hg19UCSC Ensembl
chr5:3562812..3562832hg18UCSC Ensembl
Innerchr5:3562830..3562811hg18UCSC Ensembl
Outerchr5:3562794..3562850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325800
Supporting Variants
SamplesNA18522
Known GenesLINC01019
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8922994
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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