A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725994



Internal ID9960300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141771030..141771640hg38UCSC Ensembl
Outerchr3:141489872..141490482hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864750, essv6896282, essv6962564, essv6714859, essv6697441, essv6933970, essv6704385, essv6770156, essv6942538, essv6906706
SamplesSSM027, SSM065, SSM038, SSM023, SSM021, SSM089, SSM001, SSM040, SSM099, SSM043
Known Genes
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)esv2725994
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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