A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727378



Internal ID10311014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33471794..33472111hg38UCSC Ensembl
Outerchr4:33473416..33473733hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689945, essv6829695
SamplesSSM036, SSM081
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)esv2727378
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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