A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726979



Internal ID9961287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5856672..5857104hg38UCSC Ensembl
Outerchr4:5858399..5858831hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836872, essv6704480, essv6789909
SamplesSSM040, SSM083, SSM070
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)esv2726979
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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