A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724756



Internal ID10308392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50189531..50190015hg38UCSC Ensembl
Outerchr22:50627960..50628444hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682708, essv6950382, essv6714101, essv6828864, essv6928932, essv6941619, essv6718029, essv6707160, essv6832440, essv6954546, essv6810247, essv6780703, essv6921579, essv6967709, essv6933144, essv6816457, essv6901500, essv6784825, essv6846867, essv6696874, essv6839827, essv6905987, essv6675026, essv6824824, essv6797295, essv6769403, essv6725692, essv6885881, essv6948995, essv6694987, essv6946323, essv6721846, essv6788982, essv6853023, essv6793136
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM013, SSM042, SSM023, SSM069, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM020, SSM005, SSM080, SSM037, SSM077, SSM022, SSM070, SSM095, SSM025, SSM043
Known GenesTRABD
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)esv2724756
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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