A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674232



Internal ID9593651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33057076..33057274hg38UCSC Ensembl
chr2:33282143..33282341hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5481473, essv6388857, essv6490612, essv5524557, essv6262640
SamplesHG00127, HG01173, NA19372, HG00329, NA11830
Known GenesLTBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674232
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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