A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665474



Internal ID9931579
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5760173, essv5474749, essv6145917, essv5835649, essv5837270, essv6515285, essv6533474, essv5821285, essv6291991
SamplesNA19190, NA18871, NA19654, NA19390, NA18517, NA19248, NA19900, NA19129, NA19463
Known GenesPLA2G5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665474
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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