A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825561



Internal ID10226487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:29928628..29928969hg38UCSC Ensembl
Outerchr3:29970119..29970460hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725080
Supporting Variants
SamplesSSM080
Known GenesRBMS3
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)essv6825561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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