A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741131



Internal ID10295247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186627076..186627255hg38UCSC Ensembl
Outerchr4:187548230..187548409hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv863e201
Supporting Variantsessv6715182
SamplesSSM043
Known GenesFAT1
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)esv2741131
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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