A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729451



Internal ID9963766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1238163..1238808hg38UCSC Ensembl
Outerchr5:1238278..1238923hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817823, essv6889914, essv6852875, essv6777891, essv6814074, essv6781926
SamplesSSM078, SSM067, SSM097, SSM077, SSM011, SSM068
Known GenesSLC6A18
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)esv2729451
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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