A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302484



Internal ID15149431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575240..232575300hg38UCSC Ensembl
Innerchr2:232575270..232575270hg38UCSC Ensembl
Outerchr2:232575140..232575400hg38UCSC Ensembl
chr2:233439950..233440010hg19UCSC Ensembl
Innerchr2:233439980..233439980hg19UCSC Ensembl
Outerchr2:233439850..233440110hg19UCSC Ensembl
chr2:233148194..233148254hg18UCSC Ensembl
Innerchr2:233148224..233148224hg18UCSC Ensembl
Outerchr2:233148094..233148354hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731172, essv7731304, essv7730942, essv7731376
SamplesNA12891, NA19238, NA19239, NA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302484
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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