A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721085



Internal ID10304721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166590851..166592346hg38UCSC Ensembl
Outerchr2:167447361..167448856hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381496
hg191496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721977, essv6955460, essv6817072, essv6819686, essv6953551, essv6736301, essv6759361, essv6752298, essv6962219, essv6920385, essv6764440, essv6698353, essv6864467, essv6844225, essv6742463, essv6818597, essv6869035, essv6739183, essv6910476, essv6917865, essv6748102, essv6950977
SamplesSSM008, SSM027, SSM050, SSM090, SSM061, SSM026, SSM089, SSM017, SSM003, SSM001, SSM006, SSM085, SSM007, SSM015, SSM078, SSM053, SSM010, SSM025, SSM004, SSM052, SSM056, SSM063
Known Genes
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)esv2721085
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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