A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800427



Internal ID9856112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108614794..108614926hg38UCSC Ensembl
Outerchr13:109267142..109267274hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975, esv2747978, esv2747977
Supporting Variants
SamplesSSM072
Known GenesMYO16
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)essv6800427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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