A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730454



Internal ID10140890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102463635..102464365hg38UCSC Ensembl
Outerchr4:103384792..103385522hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728071
Supporting Variants
SamplesSSM047
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)essv6730454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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