A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853398



Internal ID9661735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44794905..44795466hg38UCSC Ensembl
Outerchr5:44795007..44795568hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730149
Supporting Variants
SamplesSSM011
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)essv6853398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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