A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8971321



Internal ID13748410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30131309..30131365hg38UCSC Ensembl
Innerchr17:30131321..30131350hg38UCSC Ensembl
Outerchr17:30131265..30131406hg38UCSC Ensembl
chr17:28458327..28458383hg19UCSC Ensembl
Innerchr17:28458339..28458368hg19UCSC Ensembl
Outerchr17:28458283..28458424hg19UCSC Ensembl
chr17:25482453..25482509hg18UCSC Ensembl
Innerchr17:25482494..25482465hg18UCSC Ensembl
Outerchr17:25482409..25482550hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344007
Supporting Variants
SamplesNA18489
Known GenesNSRP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8971321
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