A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955989



Internal ID9718075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1672205..1672339hg38UCSC Ensembl
Outerchr4:1673932..1674066hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726831, esv2726830
Supporting Variants
SamplesSSM026
Known GenesFAM53A
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)essv6955989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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