A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969205



Internal ID10075882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143555784..143556102hg38UCSC Ensembl
Outerchr5:142935349..142935667hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730859
Supporting Variants
SamplesSSM028
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)essv6969205
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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