A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831776



Internal ID9885394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564204..8564708hg38UCSC Ensembl
Outerchr16:8614206..8614710hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713935
Supporting Variants
SamplesSSM081
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)essv6831776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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