A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835440



Internal ID10235191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81516980..81517431hg38UCSC Ensembl
Outerchr16:81550585..81551036hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714779
Supporting Variants
SamplesSSM082
Known GenesCMIP
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)essv6835440
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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