A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1264e201



Internal ID20126151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123404298..123405120hg38UCSC Ensembl
chr9:126166577..126167399hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739023, esv2739021
SamplesSSM036, SSM083, SSM027, SSM024, SSM046, SSM079, SSM097, SSM009, SSM073, SSM088, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM067, SSM014, SSM086, SSM066, SSM068, SSM040, SSM015, SSM078, SSM080, SSM076, SSM070, SSM095, SSM056, SSM030, SSM063, SSM012
Known GenesDENND1A
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)dgv1264e201
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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