A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719496



Internal ID10303132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171220985..171221062hg38UCSC Ensembl
Outerchr1:171190124..171190201hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853430, essv6816746, essv6859344
SamplesSSM087, SSM088, SSM078
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)esv2719496
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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