A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724054



Internal ID9958355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23502457..23503098hg38UCSC Ensembl
Outerchr22:23844644..23845285hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815354, essv6915418, essv6972043, essv6875175, essv6843669, essv6948507, essv6967616, essv6846817, essv6667699, essv6666617, essv6946249, essv6842498, essv6868535, essv6909866, essv6725619, essv6925477, essv6753371, essv6721794, essv6902327, essv6880294, essv6707110, essv6913770, essv6937437, essv6858895
SamplesSSM027, SSM045, SSM011, SSM087, SSM009, SSM093, SSM002, SSM057, SSM023, SSM028, SSM084, SSM021, SSM018, SSM029, SSM089, SSM003, SSM044, SSM014, SSM085, SSM040, SSM015, SSM010, SSM004, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724054
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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