A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725826



Internal ID10309462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119700850..119701862hg38UCSC Ensembl
Outerchr3:119419697..119420709hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739354, essv6714838, essv6914486, essv6789543, essv6821099, essv6896267, essv6837487, essv6910657, essv6918059, essv6762202, essv6922384, essv6833138, essv6899093, essv6683346, essv6807860, essv6872184, essv6859938, essv6921906, essv6804893, essv6756938
SamplesSSM100, SSM059, SSM075, SSM009, SSM074, SSM088, SSM002, SSM018, SSM062, SSM017, SSM003, SSM082, SSM015, SSM016, SSM010, SSM091, SSM034, SSM099, SSM043, SSM052
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)esv2725826
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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