A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678916



Internal ID9945021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3365329..3366232hg38UCSC Ensembl
Outerchr6:3365172..3366385hg38UCSC Ensembl
Innerchr6:3365563..3366466hg19UCSC Ensembl
Outerchr6:3365406..3366619hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6338914, essv5794247
SamplesNA19660, HG01125
Known GenesSLC22A23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678916
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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