A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922585



Internal ID9987240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194400476..194401184hg38UCSC Ensembl
Outerchr3:194121205..194121913hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726434
Supporting Variants
SamplesSSM003
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)essv6922585
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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