A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5927148



Internal ID9906972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20170696..20171244hg38UCSC Ensembl
chr1:20497189..20497737hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674305
Supporting Variants
SamplesNA20802
Known GenesPLA2G2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5927148
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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