A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747897



Internal ID9982181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101067121..101067465hg38UCSC Ensembl
Outerchr13:101719473..101719817hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827928
SamplesSSM080
Known GenesNALCN
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)esv2747897
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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