A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727414



Internal ID10311050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37036382..37037246hg38UCSC Ensembl
Outerchr4:37038004..37038868hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821916, essv6875291, essv6748345, essv6670218, essv6878204, essv6880994, essv6754106, essv6751192, essv6848598, essv6864912, essv6739485, essv6733996, essv6790955, essv6683480, essv6922558, essv6794116, essv6745514, essv6722748, essv6742707, essv6693626, essv6667270, essv6947278, essv6810880, essv6736563, essv6700410, essv6762306, essv6956089, essv6836907, essv6850642, essv6764662, essv6915595, essv6805018, essv6896389, essv6848250, essv6759621, essv6860129, essv6755554, essv6906897, essv6973797, essv6962808, essv6850653, essv6854413, essv6934135, essv6872311, essv6817497
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM079, SSM087, SSM009, SSM093, SSM050, SSM074, SSM088, SSM002, SSM057, SSM058, SSM092, SSM021, SSM018, SSM061, SSM029, SSM062, SSM026, SSM089, SSM094, SSM031, SSM001, SSM014, SSM086, SSM006, SSM078, SSM053, SSM037, SSM076, SSM091, SSM055, SSM034, SSM099, SSM052, SSM049, SSM056, SSM030, SSM063
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)esv2727414
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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