A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747359



Internal ID9981643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46463961..46464845hg38UCSC Ensembl
Outerchr13:47038096..47038980hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972496, essv6831459, essv6806491, essv6706350, essv6924492, essv6970985, essv6768626, essv6809500, essv6741212
SamplesSSM075, SSM064, SSM074, SSM028, SSM018, SSM081, SSM040, SSM004, SSM052
Known Genes
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)esv2747359
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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