A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838648



Internal ID15007284
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 StatusS
Merged Variantsesv3309189
Supporting Variants
SamplesNA19238
Known GenesSPATA9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838648
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer