A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724247



Internal ID10307883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39211543..39212057hg38UCSC Ensembl
Outerchr22:39607548..39608062hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807240, essv6801441, essv6764090, essv6835984, essv6954490, essv6776761, essv6883143, essv6917241, essv6758945, essv6667888, essv6921522, essv6696822, essv6871589, essv6813045, essv6694776, essv6699474, essv6707125, essv6804291, essv6753389, essv6735892, essv6773252, essv6967638, essv6747187, essv6846837, essv6843695, essv6725640, essv6717978, essv6682662, essv6972068, essv6905949, essv6839788
SamplesSSM059, SSM083, SSM027, SSM045, SSM065, SSM038, SSM013, SSM073, SSM074, SSM057, SSM028, SSM084, SSM090, SSM062, SSM017, SSM094, SSM033, SSM066, SSM085, SSM040, SSM072, SSM082, SSM007, SSM016, SSM005, SSM037, SSM076, SSM025, SSM004, SSM043, SSM049
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)esv2724247
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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