A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727955



Internal ID9962267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88912044..88912458hg38UCSC Ensembl
Outerchr4:89833195..89833609hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918290
SamplesSSM017
Known GenesFAM13A
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)esv2727955
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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