A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863005



Internal ID10257483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32484307..32486402hg38UCSC Ensembl
Outerchr16:32495628..32497723hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382096
hg192096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714208, esv2714206, esv2714204, esv2714201, esv2714209
Supporting Variants
SamplesSSM088
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)essv6863005
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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