A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723384



Internal ID10307020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223478805..223479600hg38UCSC Ensembl
Outerchr1:223652147..223652942hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880558, essv6733616, essv6898753, essv6917612
SamplesSSM100, SSM017, SSM094, SSM049
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)esv2723384
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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