A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742989



Internal ID9977273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22658841..22659564hg38UCSC Ensembl
Outerchr1:22985334..22986057hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933316
SamplesSSM021
Known GenesC1QB
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)esv2742989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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