A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728373



Internal ID10312009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134668904..134669036hg38UCSC Ensembl
Outerchr4:135590059..135590191hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825979, essv6907078, essv6686903
SamplesSSM035, SSM014, SSM080
Known Genes
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)esv2728373
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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