A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342245



Internal ID14842513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70985751..70985803hg38UCSC Ensembl
Innerchr1:70985753..70985801hg38UCSC Ensembl
Outerchr1:70985749..70985805hg38UCSC Ensembl
chr1:71451434..71451486hg19UCSC Ensembl
Innerchr1:71451436..71451484hg19UCSC Ensembl
Outerchr1:71451432..71451488hg19UCSC Ensembl
chr1:71224022..71224074hg18UCSC Ensembl
Innerchr1:71224024..71224072hg18UCSC Ensembl
Outerchr1:71224020..71224076hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7862072, essv7862073
SamplesNA18871, NA12005
Known GenesPTGER3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342245
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer