A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695307



Internal ID14705937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43447636..43449134hg38UCSC Ensembl
Innerchr6:43448134..43448636hg38UCSC Ensembl
Outerchr6:43446636..43450134hg38UCSC Ensembl
chr6:43415374..43416872hg19UCSC Ensembl
Innerchr6:43415872..43416374hg19UCSC Ensembl
Outerchr6:43414374..43417872hg19UCSC Ensembl
chr6:43523352..43524850hg18UCSC Ensembl
Innerchr6:43524352..43523850hg18UCSC Ensembl
Outerchr6:43522352..43525850hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416007
Supporting Variants
SamplesNA19239
Known GenesABCC10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695307
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