A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728894



Internal ID10312530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184624549..184624673hg38UCSC Ensembl
Outerchr4:185545703..185545827hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860385, essv6865170
SamplesSSM088, SSM089
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)esv2728894
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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