A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727213



Internal ID10310849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:15187635..15200326hg38UCSC Ensembl
Outerchr4:15189259..15201950hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3812692
hg1912692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922542, essv6968765
SamplesSSM028, SSM018
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)esv2727213
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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