A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731044



Internal ID9965361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168665505..168665919hg38UCSC Ensembl
Outerchr5:168092510..168092924hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790364, essv6822325, essv6719283, essv6969221, essv6855026
SamplesSSM028, SSM087, SSM079, SSM044, SSM070
Known GenesSLIT3
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)esv2731044
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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