A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678374



Internal ID9944479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122990473..122991370hg38UCSC Ensembl
Outerchr3:122990434..122991427hg38UCSC Ensembl
Innerchr3:122709320..122710217hg19UCSC Ensembl
Outerchr3:122709281..122710274hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6051868, essv5526949, essv6504438, essv5878812, essv5737960, essv5834374, essv6167263, essv5543685, essv5674775, essv6246623
SamplesNA18592, NA18599, NA18960, NA18498, HG00268, NA18555, NA07051, NA12830, NA20503, NA18577
Known GenesSEMA5B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678374
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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