A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726042



Internal ID10309678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149550686..149552401hg38UCSC Ensembl
Outerchr3:149268473..149270188hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381716
hg191716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673687, essv6910680, essv6907373, essv6751084, essv6829587, essv6736464, essv6840584, essv6804922, essv6899115, essv6918082, essv6821288, essv6723576, essv6875191, essv6914504, essv6872210, essv6817354, essv6683375, essv6742613, essv6689831, essv6854215, essv6781539, essv6777536, essv6789811, essv6849553, essv6878121, essv6759529, essv6785691, essv6798127, essv6869190
SamplesSSM100, SSM036, SSM011, SSM087, SSM093, SSM050, SSM074, SSM057, SSM092, SSM084, SSM090, SSM069, SSM061, SSM017, SSM067, SSM001, SSM068, SSM081, SSM072, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM010, SSM091, SSM070, SSM034
Known GenesWWTR1
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)esv2726042
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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