A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727457



Internal ID10311093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:39160980..39161090hg38UCSC Ensembl
Outerchr4:39162600..39162710hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968781
SamplesSSM028
Known GenesMIR1273H
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)esv2727457
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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