A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726960



Internal ID10310596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3901539..4174369hg38UCSC Ensembl
Outerchr4:3903266..4176096hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38272831
hg19272831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860082, essv6798243, essv6817454, essv6686746, essv6789908, essv6700188, essv6878177, essv6711297, essv6892963, essv6759585, essv6864860, essv6854353, essv6700177, essv6938414, essv6807964, essv6689908, essv6844477, essv6836871, essv6781645, essv6810850, essv6850253
SamplesSSM036, SSM083, SSM075, SSM011, SSM087, SSM093, SSM042, SSM088, SSM061, SSM089, SSM035, SSM006, SSM085, SSM068, SSM072, SSM078, SSM076, SSM022, SSM070, SSM098
Known GenesFAM86EP
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)esv2726960
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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