A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673444



Internal ID9939549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158128799..158129697hg38UCSC Ensembl
chr2:158985311..158986209hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38899
hg19899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6189881, essv6490758, essv6569814, essv6156550, essv6154299, essv6015515, essv5814049, essv6154289
SamplesNA19397, HG01366, NA19247, NA18910, NA19375, NA19331, NA19334, NA19376
Known GenesUPP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673444
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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