A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726743



Internal ID9961051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:999627..999884hg38UCSC Ensembl
Outerchr4:993415..993672hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742663, essv6922494, essv6748303, essv6918166, essv6777610, essv6711280, essv6929835, essv6840667, essv6973694
SamplesSSM042, SSM084, SSM018, SSM029, SSM017, SSM067, SSM020, SSM053, SSM056
Known GenesIDUA
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)esv2726743
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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