A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727353



Internal ID10310989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:31461783..31467908hg38UCSC Ensembl
Outerchr4:31463405..31469530hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg386126
hg196126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790877, essv6962796
SamplesSSM027, SSM009
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)esv2727353
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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