A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854336



Internal ID9905699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2396133..2396703hg38UCSC Ensembl
Outerchr4:2397860..2398430hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726841, esv2726835, esv2726843
Supporting Variants
SamplesSSM087
Known GenesZFYVE28
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)essv6854336
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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