A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726865



Internal ID9961173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2945630..2946289hg38UCSC Ensembl
Outerchr4:2947357..2948016hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947228, essv6825763, essv6955994, essv6973709, essv6670136, essv6899187, essv6704474, essv6807958
SamplesSSM100, SSM024, SSM075, SSM029, SSM026, SSM031, SSM040, SSM080
Known GenesNOP14, NOP14-AS1
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)esv2726865
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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