A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728876



Internal ID9963191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183711333..183712090hg38UCSC Ensembl
Outerchr4:184632486..184633243hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759755, essv6734118
SamplesSSM061, SSM049
Known GenesTRAPPC11
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)esv2728876
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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