A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv32e201



Internal ID22759390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119529983..119592932hg38UCSC Ensembl
chr1:120072606..120135555hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862950
hg1962950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740887, esv2716795, esv2741666
SamplesSSM059, SSM008, SSM071, SSM075, SSM046, SSM064, SSM087, SSM097, SSM039, SSM009, SSM073, SSM074, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM029, SSM096, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM067, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM007, SSM078, SSM005, SSM080, SSM077, SSM076, SSM010, SSM091, SSM025, SSM043, SSM052, SSM049, SSM056
Known GenesHSD3BP4
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)dgv32e201
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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