A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729443



Internal ID10313079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1209981..1210410hg38UCSC Ensembl
Outerchr5:1210096..1210525hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951594
SamplesSSM025
Known GenesSLC6A19
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)esv2729443
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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