A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674737



Internal ID9940842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149060997..149062185hg38UCSC Ensembl
chr2:149917511..149918699hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6303093, essv6028562, essv6185216
SamplesNA19383, NA19440, NA19474
Known GenesLYPD6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674737
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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