A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335248



Internal ID14835521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16209629..16209652hg38UCSC Ensembl
Innerchr17:16209592..16209689hg38UCSC Ensembl
Outerchr17:16209569..16209712hg38UCSC Ensembl
chr17:16112943..16112966hg19UCSC Ensembl
Innerchr17:16112906..16113003hg19UCSC Ensembl
Outerchr17:16112883..16113026hg19UCSC Ensembl
chr17:16053668..16053691hg18UCSC Ensembl
Innerchr17:16053728..16053631hg18UCSC Ensembl
Outerchr17:16053608..16053751hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865961
SamplesNA12005
Known GenesNCOR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335248
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