A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913160



Internal ID10021305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48966594..48967110hg38UCSC Ensembl
Outerchr16:49000505..49001021hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714442
Supporting Variants
SamplesSSM015
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)essv6913160
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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