A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726268



Internal ID10309904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:180513927..180514582hg38UCSC Ensembl
Outerchr3:180231715..180232370hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693505, essv6700360, essv6794000, essv6679802, essv6882398, essv6922445, essv6722636, essv6922419, essv6670040, essv6938337
SamplesSSM071, SSM045, SSM039, SSM018, SSM003, SSM031, SSM033, SSM037, SSM022, SSM012
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)esv2726268
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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