A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv422e201



Internal ID22759780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47157104..47158167hg38UCSC Ensembl
chr17:45234470..45235533hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716007, esv2716002, esv2716004, esv2715999, esv2715996
SamplesSSM036, SSM008, SSM027, SSM064, SSM065, SSM087, SSM009, SSM050, SSM042, SSM002, SSM057, SSM058, SSM028, SSM084, SSM021, SSM047, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM014, SSM086, SSM033, SSM066, SSM006, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM022, SSM055, SSM025, SSM004, SSM043, SSM056, SSM012
Known GenesCDC27
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)dgv422e201
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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