A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725538



Internal ID9959844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77293744..77296043hg38UCSC Ensembl
Outerchr3:77342895..77345194hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693422, essv6711159, essv6813664, essv6785625, essv6926178, essv6689772, essv6730168, essv6730167
SamplesSSM036, SSM042, SSM077, SSM047, SSM069, SSM037, SSM019
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)esv2725538
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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