A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674003



Internal ID9593422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20172273..20174023hg38UCSC Ensembl
Outerchr1:20172236..20174073hg38UCSC Ensembl
Innerchr1:20498766..20500516hg19UCSC Ensembl
Outerchr1:20498729..20500566hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5773198
SamplesNA18505
Known GenesPLA2G2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674003
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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