A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737584



Internal ID10321220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5865192..5865645hg38UCSC Ensembl
Outerchr1:5925252..5925705hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828990, essv6721990, essv6843743, essv6821162
SamplesSSM045, SSM011, SSM079, SSM081
Known GenesNPHP4
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)esv2737584
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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