A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340418



Internal ID14840688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31990996..31993094hg38UCSC Ensembl
Innerchr6:31991996..31992094hg38UCSC Ensembl
Outerchr6:31989996..31994094hg38UCSC Ensembl
chr6:31958773..31960871hg19UCSC Ensembl
Innerchr6:31959773..31959871hg19UCSC Ensembl
Outerchr6:31957773..31961871hg19UCSC Ensembl
chr6:32066752..32068850hg18UCSC Ensembl
Innerchr6:32067752..32067850hg18UCSC Ensembl
Outerchr6:32065752..32069850hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695248
SamplesNA19238
Known GenesC4A, C4B, C4B_2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340418
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