A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv322e201



Internal ID22759680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1396973..1397430hg38UCSC Ensembl
chr16:1446974..1447431hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750337, esv2750335
SamplesSSM027, SSM002, SSM028, SSM082, SSM020, SSM025
Known GenesUNKL
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)dgv322e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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