A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821343



Internal ID10007228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169020663..169021044hg38UCSC Ensembl
Outerchr3:168738451..168738832hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726178
Supporting Variants
SamplesSSM010
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)essv6821343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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