A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726287



Internal ID10309923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182726888..182727942hg38UCSC Ensembl
Outerchr3:182444676..182445730hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381055
hg191055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754020, essv6875209, essv6951251, essv6745415, essv6848106, essv6955517, essv6730245, essv6723798, essv6918104, essv6804945, essv6756971, essv6933997, essv6733916, essv6789955, essv6751105, essv6700362, essv6679804
SamplesSSM059, SSM039, SSM009, SSM074, SSM057, SSM058, SSM092, SSM021, SSM047, SSM017, SSM086, SSM033, SSM007, SSM055, SSM025, SSM004, SSM049
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)esv2726287
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer