A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725558



Internal ID10309194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79760649..79760813hg38UCSC Ensembl
Outerchr3:79809799..79809963hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854124, essv6889515, essv6926179, essv6669909, essv6951164, essv6955762, essv6802040
SamplesSSM087, SSM097, SSM073, SSM026, SSM019, SSM031, SSM025
Known GenesROBO1
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)esv2725558
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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