A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353471



Internal ID15200452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28164241..28164241hg38UCSC Ensembl
Innerchr17:28164240..28164242hg38UCSC Ensembl
Outerchr17:28164191..28164291hg38UCSC Ensembl
chr17:26491267..26491267hg19UCSC Ensembl
Innerchr17:26491266..26491268hg19UCSC Ensembl
Outerchr17:26491217..26491317hg19UCSC Ensembl
chr17:23515394..23515394hg18UCSC Ensembl
Innerchr17:23515395..23515393hg18UCSC Ensembl
Outerchr17:23515344..23515444hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382330
hg192330
hg182330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740866
SamplesNA19240
Known GenesNLK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353471
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