A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2724056

Internal ID9958357
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23575662..23641159hg38UCSC Ensembl
Outerchr22:23917849..23983346hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2724056
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0

Hosted by The Centre for Applied Genomics
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