A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733917



Internal ID10144213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184158890..184159469hg38UCSC Ensembl
Outerchr3:183876678..183877257hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726295
Supporting Variants
SamplesSSM049
Known GenesDVL3
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)essv6733917
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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