A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv363e201



Internal ID22759721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46383469..46383690hg38UCSC Ensembl
chr16:46417381..46417602hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2714383, esv2714386, esv2714388
SamplesSSM071, SSM027, SSM024, SSM087, SSM039, SSM023, SSM047, SSM029, SSM026, SSM089, SSM019, SSM035, SSM032, SSM044, SSM086, SSM082, SSM077
Known Genes
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)dgv363e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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