A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6739278



Internal ID9803755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4619396..4619924hg38UCSC Ensembl
Outerchr3:4661080..4661608hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724827
Supporting Variants
SamplesSSM052
Known GenesITPR1
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)essv6739278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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