A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5475235



Internal ID8452638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132422414..132423344hg38UCSC Ensembl
chr2:133179987..133180917hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658002
Supporting Variants
SamplesNA18504
Known GenesGPR39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5475235
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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