A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724056



Internal ID9958357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23575662..23641159hg38UCSC Ensembl
Outerchr22:23917849..23983346hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3865498
hg1965498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954469, essv6815365, essv6941537, essv6863732, essv6717953, essv6782754, essv6913771, essv6703641, essv6835969, essv6773229, essv6892164, essv6950304, essv6717955, essv6692562, essv6901459, essv6721795, essv6874554, essv6842509, essv6703640, essv6902330, essv6753373, essv6666618, essv6972044, essv6689118, essv6692561, essv6714037, essv6776748, essv6729411, essv6721796, essv6776749, essv6828811, essv6766415, essv6707111, essv6925478, essv6888858, essv6933070, essv6895664, essv6735872, essv6961165, essv6915429, essv6694632, essv6835970, essv6696796, essv6801425, essv6937438, essv6682648, essv6689117, essv6714038, essv6666619, essv6921498, essv6839766, essv6843670, essv6828812, essv6941536, essv6733289, essv6832384, essv6753372, essv6753374, essv6685992, essv6789376, essv6761732, essv6846818, essv6898462, essv6941535, essv6858896, essv6766414, essv6815377, essv6902328, essv6946250, essv6793053, essv6941538
SamplesSSM010, SSM065, SSM022, SSM082, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM043, SSM088, SSM035, SSM025, SSM072, SSM020, SSM057, SSM001, SSM039, SSM024, SSM083, SSM097, SSM005, SSM012, SSM100, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM047, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM046, SSM096, SSM023, SSM044, SSM015, SSM026, SSM049, SSM008, SSM098, SSM018, SSM081, SSM070, SSM080
Known GenesC22orf43, GUSBP11, IGLL1
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)esv2724056
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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