A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725688



Internal ID10309324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99909911..99910766hg38UCSC Ensembl
Outerchr3:99628755..99629610hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736436, essv6686634, essv6938279, essv6886407, essv6714826, essv6910646, essv6673399, essv6697411, essv6854147, essv6847985, essv6869151, essv6798086, essv6859914, essv6883688, essv6722578, essv6759491, essv6849120, essv6793922, essv6675792, essv6973494, essv6880862, essv6875161, essv6742585, essv6699343, essv6807849, essv6951188, essv6745370, essv6748207, essv6968593, essv6679752, essv6751045, essv6864711, essv6817296, essv6773996, essv6718703, essv6947109, essv6700280, essv6804875, essv6810755, essv6942499, essv6762195, essv6766971, essv6892846, essv6825634, essv6754075, essv6733871, essv6914475, essv6921873, essv6906739, essv6933946, essv6903076, essv6707784, essv6821044, essv6781495
SamplesSSM008, SSM071, SSM024, SSM075, SSM045, SSM011, SSM064, SSM087, SSM038, SSM039, SSM013, SSM050, SSM074, SSM088, SSM041, SSM057, SSM023, SSM028, SSM092, SSM090, SSM021, SSM061, SSM029, SSM096, SSM062, SSM089, SSM035, SSM094, SSM032, SSM003, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM068, SSM072, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM076, SSM022, SSM010, SSM055, SSM095, SSM025, SSM043, SSM098, SSM049, SSM056
Known GenesCMSS1, FILIP1L, MIR548G
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)esv2725688
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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