A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6145917



Internal ID9569506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20080592..20084194hg38UCSC Ensembl
chr1:20407085..20410687hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383603
hg193603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665474
Supporting Variants
SamplesNA19129
Known GenesPLA2G5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6145917
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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