A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724385



Internal ID10308021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44904458..44904862hg38UCSC Ensembl
Outerchr22:45300338..45300742hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828838, essv6793096, essv6913816, essv6703671, essv6871602, essv6694898, essv6901483, essv6699480, essv6689136, essv6858948, essv6877563, essv6835999, essv6875398, essv6824791, essv6807251, essv6733335, essv6813053, essv6941576, essv6892186, essv6788949, essv6888878, essv6863761, essv6773275, essv6721822, essv6797261, essv6874582, essv6880314, essv6921538, essv6815687, essv6682673, essv6821011, essv6961215, essv6769378, essv6843715, essv6744830, essv6895696, essv6714074, essv6666675, essv6784780, essv6946291, essv6902363, essv6852977, essv6885858, essv6832413, essv6898491, essv6753397, essv6725655, essv6804298, essv6717998, essv6747669, essv6707136, essv6766442, essv6747276, essv6710442, essv6846845, essv6717994, essv6801459, essv6883152
SamplesSSM100, SSM071, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM029, SSM096, SSM026, SSM017, SSM035, SSM094, SSM044, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM053, SSM005, SSM080, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM099, SSM043, SSM098, SSM063, SSM012
Known GenesPHF21B
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)esv2724385
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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