A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747851



Internal ID9982135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:96694974..96695954hg38UCSC Ensembl
Outerchr13:97347228..97348208hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688442, essv6752706, essv6735322
SamplesSSM035, SSM057, SSM049
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)esv2747851
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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