A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726866



Internal ID9961174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2945899..2946060hg38UCSC Ensembl
Outerchr4:2947626..2947787hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825763, essv6704474, essv6807958, essv6899187, essv6955994, essv6947228
SamplesSSM040, SSM024, SSM100, SSM075, SSM026, 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)esv2726866
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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