A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673412



Internal ID2906499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161390698..161393735hg38UCSC Ensembl
Outerchr6:161390661..161393785hg38UCSC Ensembl
Innerchr6:161811730..161814767hg19UCSC Ensembl
Outerchr6:161811693..161814817hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg383125
hg193125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5463720, essv6213096, essv5807941
SamplesNA19397, NA18853, NA19385
Known GenesPARK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673412
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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