A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688442



Internal ID9755712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:96695548..96695656hg38UCSC Ensembl
Outerchr13:97347802..97347910hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747853, esv2747851
Supporting Variants
SamplesSSM035
Known GenesHS6ST3
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)essv6688442
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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