A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5671313



Internal ID9167367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197893671..197896915hg38UCSC Ensembl
chr2:198758395..198761639hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383245
hg193245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671075
Supporting Variants
SamplesHG01366
Known GenesPLCL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5671313
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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