A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756554



Internal ID10002379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:118890365..118890846hg38UCSC Ensembl
Outerchr4:119811520..119812001hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728223
Supporting Variants
SamplesSSM008
Known GenesSYNPO2
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)essv6756554
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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