A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857550



Internal ID9908593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108709406..108710077hg38UCSC Ensembl
Outerchr13:109361754..109362425hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975, esv2747979
Supporting Variants
SamplesSSM087
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)essv6857550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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