A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659660



Internal ID9579079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38005484..38133194hg38UCSC Ensembl
chr2:38232627..38360336hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38127711
hg19127710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6222797
SamplesHG00373
Known GenesCYP1B1, CYP1B1-AS1, RMDN2, RMDN2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659660
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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