A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726481



Internal ID10310117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195686389..195688008hg38UCSC Ensembl
Outerchr3:195413260..195414879hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381620
hg191620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802123, essv6836817, essv6821676, essv6860045, essv6878159, essv6790210, essv6889614, essv6751132, essv6882642, essv6798188, essv6774078, essv6848138, essv6955926, essv6723976, essv6869228, essv6675881, essv6962656, essv6693535, essv6922674, essv6938366, essv6833212, essv6745453, essv6675880, essv6926275, essv6968680, essv6914549, essv6711257, essv6886489, essv6899161, essv6973658, essv6742646, essv6892918, essv6880941, essv6670081, essv6854293, essv6896325, essv6686719, essv6759566, essv6670080, essv6817414, essv6726506, essv6833213, essv6883762, essv6910730, essv6781594, essv6869229, essv6718795, essv6918131, essv6748291, essv6825729, essv6767036
SamplesSSM100, SSM083, SSM027, SSM046, SSM064, SSM087, SSM097, SSM009, SSM073, SSM093, SSM042, SSM088, SSM057, SSM028, SSM090, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM086, SSM066, SSM068, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM022, SSM010, SSM055, SSM095, SSM099, SSM098, SSM056, SSM012
Known GenesSDHAP2
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)esv2726481
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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