A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678312



Internal ID9747171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25054851..25126056hg38UCSC Ensembl
Outerchr16:25066172..25137377hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3871206
hg1971206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714121
Supporting Variants
SamplesSSM032
Known GenesLCMT1
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)essv6678312
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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