A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719973



Internal ID10303609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:181068955..181069793hg38UCSC Ensembl
Outerchr1:181038091..181038929hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750713
SamplesSSM057
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)esv2719973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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