A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5407242



Internal ID8958990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133988065..133996534hg38UCSC Ensembl
chr2:134745636..134754105hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg388470
hg198470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667372
Supporting Variants
SamplesHG00525
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5407242
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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