A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732618



Internal ID10143401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32312209..32350690hg38UCSC Ensembl
Outerchr16:32323530..32362011hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3838482
hg1938482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714201, esv2714202
Supporting Variants
SamplesSSM047
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)essv6732618
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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