A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1299e201



Internal ID22760657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1368589..1426131hg38UCSC Ensembl
chrX:1487482..1545024hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857543
hg1957543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739692, esv2739688, esv2739690, esv2739686
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
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)dgv1299e201
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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