A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv421e201



Internal ID22759779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47157100..47157240hg38UCSC Ensembl
chr17:45234466..45234606hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715994, esv2715997, esv2715998, esv2716000
SamplesSSM087, SSM042, SSM084, SSM026, SSM086, SSM037
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)dgv421e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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