A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922403



Internal ID9688449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955095..134955682hg38UCSC Ensembl
Outerchr3:134673937..134674524hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725955
Supporting Variants
SamplesSSM018
Known GenesEPHB1
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)essv6922403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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