A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726978



Internal ID9961286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5833168..5833479hg38UCSC Ensembl
Outerchr4:5834895..5835206hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962742, essv6829662, essv6722708, essv6670156
SamplesSSM027, SSM031, SSM045, SSM081
Known GenesCRMP1
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)esv2726978
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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