A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825549



Internal ID9879790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14766935..14767058hg38UCSC Ensembl
Outerchr3:14808442..14808565hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724959, esv2724945
Supporting Variants
SamplesSSM080
Known GenesC3orf20
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)essv6825549
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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