A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728877



Internal ID10312513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183734643..183737805hg38UCSC Ensembl
Outerchr4:184655796..184658958hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383163
hg193163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759756, essv6676179, essv6798479, essv6781862, essv6722913, essv6878347, essv6826033, essv6802313, essv6925063, essv6777828, essv6704694, essv6968972, essv6814014, essv6686947, essv6930097, essv6875428, essv6861375, essv6852464, essv6928484, essv6910969
SamplesSSM045, SSM011, SSM073, SSM093, SSM002, SSM028, SSM092, SSM061, SSM035, SSM032, SSM003, SSM067, SSM001, SSM068, SSM040, SSM072, SSM020, SSM015, SSM080, SSM077
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)esv2728877
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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