A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364800



Internal ID15211777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116522973..116522993hg38UCSC Ensembl
Innerchr6:116522977..116522987hg38UCSC Ensembl
Outerchr6:116522959..116523007hg38UCSC Ensembl
chr6:116844136..116844156hg19UCSC Ensembl
Innerchr6:116844140..116844150hg19UCSC Ensembl
Outerchr6:116844122..116844170hg19UCSC Ensembl
chr6:116950829..116950849hg18UCSC Ensembl
Innerchr6:116950843..116950833hg18UCSC Ensembl
Outerchr6:116950815..116950863hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676134, essv8676135
SamplesNA12891, NA19238
Known GenesTRAPPC3L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364800
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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