A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844050



Internal ID10243127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241192082..241207603hg38UCSC Ensembl
Outerchr1:241355382..241370903hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815522
hg1915522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726084
Supporting Variants
SamplesSSM085
Known GenesRGS7
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)essv6844050
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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