A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715307



Internal ID10298943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99925071..99925241hg38UCSC Ensembl
Outerchr1:100390627..100390797hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28e201
Supporting Variantsessv6864048, essv6682889, essv6853350, essv6889074, essv6954865, essv6859279, essv6669079
SamplesSSM087, SSM097, SSM088, SSM026, SSM089, SSM031, SSM034
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)esv2715307
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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