A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv413e201



Internal ID22759771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41233663..41255952hg38UCSC Ensembl
chr17:39389915..39412204hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3822290
hg1922290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715928, esv2715924
SamplesSSM059, SSM008, SSM045, SSM087, SSM029, SSM026, SSM089, SSM031, SSM001, SSM086, SSM006, SSM007, SSM078, SSM077, SSM010, SSM055, SSM099, SSM052, SSM049, SSM030, SSM063
Known GenesKRTAP9-4, KRTAP9-8, KRTAP9-9
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)dgv413e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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