A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817760



Internal ID10221380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183382551..183382807hg38UCSC Ensembl
Outerchr4:184303704..184303960hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728865
Supporting Variants
SamplesSSM078
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)essv6817760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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