A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412740



Internal ID15259699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116779779..116779798hg38UCSC Ensembl
Innerchr1:116779775..116779802hg38UCSC Ensembl
Outerchr1:116779756..116779821hg38UCSC Ensembl
chr1:117322401..117322420hg19UCSC Ensembl
Innerchr1:117322397..117322424hg19UCSC Ensembl
Outerchr1:117322378..117322443hg19UCSC Ensembl
chr1:117123924..117123943hg18UCSC Ensembl
Innerchr1:117123947..117123920hg18UCSC Ensembl
Outerchr1:117123901..117123966hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678329
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412740
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