A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv302e201



Internal ID18983941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34379790..34580648hg38UCSC Ensembl
chr15:34671991..34872849hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38200859
hg19200859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2749550, esv2749555, esv2749548, esv2749553
SamplesSSM010, SSM027, SSM013, SSM053, SSM042, SSM040, SSM088, SSM035, SSM071, SSM057, SSM001, SSM094, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM009, SSM066, SSM029, SSM003, SSM030, SSM073, SSM002, SSM087, SSM038, SSM019, SSM068, SSM044, SSM004, SSM075, SSM008, SSM076, SSM080
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)dgv302e201
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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