A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741196



Internal ID10295312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386886..46424641hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg1937756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv352e201
Supporting Variantsessv6721198
SamplesSSM044
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)esv2741196
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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