A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759127



Internal ID10169035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113497241..113503268hg38UCSC Ensembl
Outerchr1:114039863..114045890hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716440
Supporting Variants
SamplesSSM061
Known GenesMAGI3
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)essv6759127
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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