A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660363



Internal ID9926468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9140375..9140602hg38UCSC Ensembl
chr8:8997885..8998112hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6426286, essv5831818, essv5896304, essv6219174, essv5821980, essv5788628, essv5700906, essv6036748, essv6426619, essv6065411, essv5731050, essv6200290, essv5445229, essv5524717, essv5930609, essv5453582, essv5420601, essv5396600, essv5690296, essv5541762
SamplesNA18502, NA18486, NA19355, NA19379, NA20278, NA20127, NA20126, NA18907, NA19114, NA19449, NA18853, NA19225, NA19395, NA19440, NA19434, NA19467, NA19398, NA19472, NA19474, NA19711
Known GenesPPP1R3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660363
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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