A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667205



Internal ID10084294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141248459..141249115hg38UCSC Ensembl
Outerchr3:140967301..140967957hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725989
Supporting Variants
SamplesSSM030
Known GenesACPL2
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)essv6667205
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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