A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776140



Internal ID9835323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3066807..3067253hg38UCSC Ensembl
Outerchr16:3116808..3117254hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750390, esv2750394, esv2750395
Supporting Variants
SamplesSSM066
Known GenesIL32
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)essv6776140
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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