A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686715



Internal ID10103514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194894011..194894296hg38UCSC Ensembl
Outerchr3:194614740..194615025hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726450
Supporting Variants
SamplesSSM035
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)essv6686715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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