A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733935



Internal ID10144198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194400442..194401108hg38UCSC Ensembl
Outerchr3:194121171..194121837hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726434
Supporting Variants
SamplesSSM049
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)essv6733935
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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