A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724442



Internal ID10308078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46630540..46632239hg38UCSC Ensembl
Outerchr22:47026437..47028136hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv741e201
Supporting Variantsessv6909899, essv6666684, essv6744836, essv6836002, essv6793103, essv6846847, essv6750495, essv6742015, essv6961223, essv6821018, essv6769382, essv6703678, essv6946298, essv6824795, essv6714083, essv6718003, essv6832420, essv6788952, essv6682682, essv6946299, essv6718031, essv6888881, essv6901485, essv6678985, essv6784785, essv6852985, essv6950350, essv6868569, essv6816436, essv6902370, essv6801461, essv6776774, essv6967669, essv6815743, essv6692591, essv6858957, essv6725657, essv6828846, essv6839800, essv6863768, essv6756436, essv6703679, essv6753403, essv6925523, essv6813056, essv6674986, essv6901484, essv6883156, essv6895700, essv6972099, essv6729447
SamplesSSM100, SSM036, SSM083, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM087, SSM039, SSM009, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM078, SSM053, SSM080, SSM077, SSM076, SSM070, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesGRAMD4
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)esv2724442
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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