A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726273



Internal ID10309909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:180859645..180860608hg38UCSC Ensembl
Outerchr3:180577433..180578396hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807908, essv6756970, essv6882409, essv6875206, essv6914522, essv6848104, essv6751103, essv6745413, essv6754017, essv6860005, essv6759547, essv6736483, essv6973611, essv6670041, essv6748261, essv6903127, essv6951248, essv6821410, essv6841042, essv6739403, essv6962612, essv6910700, essv6918102, essv6817382, essv6764596
SamplesSSM059, SSM027, SSM075, SSM013, SSM050, SSM088, SSM002, SSM057, SSM058, SSM092, SSM061, SSM029, SSM017, SSM031, SSM086, SSM015, SSM078, SSM016, SSM010, SSM055, SSM025, SSM052, SSM056, SSM063, 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)esv2726273
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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