A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv731e201



Internal ID18984370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25231138..25584678hg38UCSC Ensembl
chr22:25627105..25980645hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38353541
hg19353541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724081, esv2724085
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesADRBK2, CRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv731e201
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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