A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730102



Internal ID10313738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38821021..38821198hg38UCSC Ensembl
Outerchr5:38821123..38821300hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881222
SamplesSSM094
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)esv2730102
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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