A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971047



Internal ID9727539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108709396..108710054hg38UCSC Ensembl
Outerchr13:109361744..109362402hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975, esv2747979
Supporting Variants
SamplesSSM028
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)essv6971047
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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