A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351675



Internal ID14851939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39898198..39899696hg38UCSC Ensembl
Innerchr6:39898696..39899198hg38UCSC Ensembl
Outerchr6:39897198..39900696hg38UCSC Ensembl
chr6:39865974..39867472hg19UCSC Ensembl
Innerchr6:39866472..39866974hg19UCSC Ensembl
Outerchr6:39864974..39868472hg19UCSC Ensembl
chr6:39973952..39975450hg18UCSC Ensembl
Innerchr6:39974952..39974450hg18UCSC Ensembl
Outerchr6:39972952..39976450hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695296
SamplesNA19239
Known GenesDAAM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351675
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