A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714807



Internal ID9949092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92195053..92196695hg38UCSC Ensembl
Outerchr1:92660610..92662252hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825052
SamplesSSM080
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)esv2714807
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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