A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765892



Internal ID9824783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108709410..108710051hg38UCSC Ensembl
Outerchr13:109361758..109362399hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975, esv2747979
Supporting Variants
SamplesSSM063
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)essv6765892
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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