A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9679458



Internal ID13605246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56458546..56458565hg38UCSC Ensembl
Innerchr20:56458542..56458569hg38UCSC Ensembl
Outerchr20:56458523..56458588hg38UCSC Ensembl
chr20:55033602..55033621hg19UCSC Ensembl
Innerchr20:55033598..55033625hg19UCSC Ensembl
Outerchr20:55033579..55033644hg19UCSC Ensembl
chr20:54467009..54467028hg18UCSC Ensembl
Innerchr20:54467032..54467005hg18UCSC Ensembl
Outerchr20:54466986..54467051hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368469
Supporting Variants
SamplesNA12814
Known GenesCASS4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9679458
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