A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728883



Internal ID10312519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183932271..183932401hg38UCSC Ensembl
Outerchr4:184853424..184853554hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881162
SamplesSSM094
Known GenesSTOX2
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)esv2728883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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