A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973546



Internal ID9731279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129465650..129465871hg38UCSC Ensembl
Outerchr3:129184493..129184714hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725902, esv2725901
Supporting Variants
SamplesSSM029
Known GenesIFT122
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)essv6973546
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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