A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695035



Internal ID15016429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131698219..131710617hg38UCSC Ensembl
Innerchr6:131699219..131709617hg38UCSC Ensembl
Outerchr6:131697219..131711617hg38UCSC Ensembl
chr6:132019359..132031757hg19UCSC Ensembl
Innerchr6:132020359..132030757hg19UCSC Ensembl
Outerchr6:132018359..132032757hg19UCSC Ensembl
chr6:132061052..132073450hg18UCSC Ensembl
Innerchr6:132062052..132072450hg18UCSC Ensembl
Outerchr6:132060052..132074450hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3812399
hg1912399
hg1812399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3452154
Supporting Variants
SamplesNA19238
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695035
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