A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872323



Internal ID10268573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47976168..47976380hg38UCSC Ensembl
Outerchr4:47978185..47978397hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727535, esv2727536
Supporting Variants
SamplesSSM091
Known GenesCNGA1
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)essv6872323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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