A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727336



Internal ID10310972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30126117..30126454hg38UCSC Ensembl
Outerchr4:30127739..30128076hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892986, essv6878199, essv6923329, essv6807986
SamplesSSM075, SSM093, SSM003, SSM098
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)esv2727336
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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