A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724948



Internal ID9959250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14136667..14137339hg38UCSC Ensembl
Outerchr3:14178167..14178839hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv764e201
Supporting Variantsessv6921206, essv6777452, essv6789700, essv6745318, essv6899024, essv6889466, essv6788888, essv6689727, essv6739285, essv6922285, essv6951098, essv6880795, essv6875105, essv6848420, essv6878032, essv6881309, essv6840483, essv6833059, essv6693359, essv6968515, essv6733822, essv6759436, essv6798010, essv6954439, essv6947022, essv6764511, essv6829481, essv6892778, essv6817193, essv6766915, essv6926126
SamplesSSM100, SSM036, SSM024, SSM011, SSM064, SSM097, SSM009, SSM093, SSM028, SSM092, SSM084, SSM018, SSM061, SSM019, SSM094, SSM003, SSM067, SSM081, SSM072, SSM082, SSM078, SSM037, SSM055, SSM070, SSM025, SSM004, SSM052, SSM098, SSM049, SSM063, SSM012
Known GenesTMEM43
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)esv2724948
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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