A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725539



Internal ID9959845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77295517..77295710hg38UCSC Ensembl
Outerchr3:77344668..77344861hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813664, essv6785625, essv6730168
SamplesSSM077, SSM047, SSM069
Known GenesROBO2
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)esv2725539
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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