A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886433



Internal ID10281449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129161126..129161358hg38UCSC Ensembl
Outerchr3:128879969..128880201hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725900
Supporting Variants
SamplesSSM096
Known GenesISY1, ISY1-RAB43
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)essv6886433
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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