A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724156



Internal ID3274652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33344302..33345244hg38UCSC Ensembl
Outerchr22:33740288..33741230hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717966, essv6696812, essv6666638, essv6747131, essv6738697, essv6782909, essv6682655, essv6846830, essv6747652, essv6948640, essv6858916, essv6714051, essv6877541, essv6933081, essv6921509, essv6917233, essv6972055, essv6784757, essv6902343, essv6874568, essv6744810, essv6954480, essv6842653, essv6756420, essv6941553, essv6801437, essv6741994, essv6750477, essv6843686, essv6810218, essv6733304, essv6925495, essv6773244, essv6815532, essv6816416
SamplesSSM010, SSM065, SSM022, SSM007, SSM092, SSM053, SSM055, SSM091, SSM033, SSM084, SSM042, SSM043, SSM025, SSM072, SSM020, SSM016, SSM050, SSM077, SSM012, SSM056, SSM085, SSM017, SSM009, SSM028, SSM029, SSM003, SSM047, SSM037, SSM087, SSM052, SSM068, SSM075, SSM008, SSM018, SSM058
Known GenesLARGE
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)esv2724156
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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