A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383365



Internal ID15230335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43426099..43426139hg38UCSC Ensembl
Innerchr2:43426109..43426127hg38UCSC Ensembl
Outerchr2:43426071..43426167hg38UCSC Ensembl
chr2:43653238..43653278hg19UCSC Ensembl
Innerchr2:43653248..43653266hg19UCSC Ensembl
Outerchr2:43653210..43653306hg19UCSC Ensembl
chr2:43506742..43506782hg18UCSC Ensembl
Innerchr2:43506770..43506752hg18UCSC Ensembl
Outerchr2:43506714..43506810hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382609
hg192609
hg182609
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8905768
SamplesNA11995
Known GenesTHADA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383365
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