A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7744550



Internal ID13416079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178093370..178093371hg38UCSC Ensembl
Innerchr2:178093319..178093422hg38UCSC Ensembl
Outerchr2:178093318..178093423hg38UCSC Ensembl
chr2:178958097..178958098hg19UCSC Ensembl
Innerchr2:178958046..178958149hg19UCSC Ensembl
Outerchr2:178958045..178958150hg19UCSC Ensembl
chr2:178666343..178666344hg18UCSC Ensembl
Innerchr2:178666395..178666292hg18UCSC Ensembl
Outerchr2:178666291..178666396hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381181
hg191181
hg181181
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304424
Supporting Variants
SamplesNA18498
Known GenesPDE11A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7744550
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