A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7791173



Internal ID14004542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624546..9624547hg38UCSC Ensembl
Innerchr20:9624530..9624563hg38UCSC Ensembl
Outerchr20:9624529..9624564hg38UCSC Ensembl
chr20:9605193..9605194hg19UCSC Ensembl
Innerchr20:9605177..9605210hg19UCSC Ensembl
Outerchr20:9605176..9605211hg19UCSC Ensembl
chr20:9553193..9553194hg18UCSC Ensembl
Innerchr20:9553210..9553177hg18UCSC Ensembl
Outerchr20:9553176..9553211hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307148
Supporting Variants
SamplesNA18547
Known GenesPAK7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7791173
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