A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729452



Internal ID10313088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1238447..1238629hg38UCSC Ensembl
Outerchr5:1238562..1238744hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817823, essv6938709
SamplesSSM078, SSM022
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)esv2729452
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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