A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685274



Internal ID9751991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108256757..108796922hg38UCSC Ensembl
Outerchr13:108909105..109449270hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38540166
hg19540166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975
Supporting Variants
SamplesSSM034
Known GenesMYO16, TNFSF13B
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)essv6685274
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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