A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723521



Internal ID9997464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139951924..139955456hg38UCSC Ensembl
Outerchr3:139670766..139674298hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg383533
hg193533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725978
Supporting Variants
SamplesSSM007
Known GenesCLSTN2
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)essv6723521
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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