A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670135



Internal ID9740690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2826411..2826808hg38UCSC Ensembl
Outerchr4:2828138..2828535hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726863, esv2726835
Supporting Variants
SamplesSSM031
Known GenesSH3BP2
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)essv6670135
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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