A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5446383



Internal ID9684025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160015708..160021785hg38UCSC Ensembl
chr2:160872219..160878296hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386078
hg196078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678234
Supporting Variants
SamplesNA19435
Known GenesPLA2R1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5446383
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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