A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675995



Internal ID15089206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561865..64561877hg38UCSC Ensembl
Innerchr5:64561856..64561883hg38UCSC Ensembl
Outerchr5:64561844..64561898hg38UCSC Ensembl
chr5:63857692..63857704hg19UCSC Ensembl
Innerchr5:63857683..63857710hg19UCSC Ensembl
Outerchr5:63857671..63857725hg19UCSC Ensembl
chr5:63893448..63893460hg18UCSC Ensembl
Innerchr5:63893466..63893439hg18UCSC Ensembl
Outerchr5:63893427..63893481hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38189
hg19189
hg18189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361616
Supporting Variants
SamplesNA19240
Known GenesRGS7BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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