A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306374



Internal ID14806636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82372563..82372564hg38UCSC Ensembl
Innerchr7:82372541..82372586hg38UCSC Ensembl
Outerchr7:82372540..82372587hg38UCSC Ensembl
chr7:82001879..82001880hg19UCSC Ensembl
Innerchr7:82001857..82001902hg19UCSC Ensembl
Outerchr7:82001856..82001903hg19UCSC Ensembl
chr7:81839815..81839816hg18UCSC Ensembl
Innerchr7:81839838..81839793hg18UCSC Ensembl
Outerchr7:81839792..81839839hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768824, essv7768401, essv7767822
SamplesNA11918, NA12287, NA12872
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306374
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