A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309189



Internal ID15156138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95658497..95658498hg38UCSC Ensembl
Innerchr5:95658454..95658541hg38UCSC Ensembl
Outerchr5:95658453..95658542hg38UCSC Ensembl
chr5:94994201..94994202hg19UCSC Ensembl
Innerchr5:94994158..94994245hg19UCSC Ensembl
Outerchr5:94994157..94994246hg19UCSC Ensembl
chr5:95019957..95019958hg18UCSC Ensembl
Innerchr5:95020001..95019914hg18UCSC Ensembl
Outerchr5:95019913..95020002hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838648
SamplesNA19238
Known GenesSPATA9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309189
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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