A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776233



Internal ID9835406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56566736..56566905hg38UCSC Ensembl
Outerchr16:56600648..56600817hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714513, esv2714514
Supporting Variants
SamplesSSM066
Known GenesMT4
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)essv6776233
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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