A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426353



Internal ID14926624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11738544..11738557hg38UCSC Ensembl
Innerchr2:11738541..11738560hg38UCSC Ensembl
Outerchr2:11738528..11738573hg38UCSC Ensembl
chr2:11878670..11878683hg19UCSC Ensembl
Innerchr2:11878667..11878686hg19UCSC Ensembl
Outerchr2:11878654..11878699hg19UCSC Ensembl
chr2:11796121..11796134hg18UCSC Ensembl
Innerchr2:11796137..11796118hg18UCSC Ensembl
Outerchr2:11796105..11796150hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8904538, essv8904535, essv8904537
SamplesNA19108, NA18916, NA18502
Known GenesLPIN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426353
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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