A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727340



Internal ID9961649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246395354..246396142hg38UCSC Ensembl
Outerchr1:246558656..246559444hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836380, essv6785204, essv6722200, essv6921948, essv6832773, essv6813345, essv6769738, essv6789391, essv6902735, essv6864214, essv6710777, essv6797679, essv6810498, essv6766706, essv6773647, essv6729826, essv6968164, essv6821390, essv6669292, essv6898781, essv6707447, essv6742317, essv6874879, essv6718359, essv6714450, essv6693006, essv6910266, essv6739014, essv6679384, essv6720464, essv6699830, essv6675406, essv6844056, essv6804585, essv6933525, essv6781085, essv6892511, essv6736147, essv6750364, essv6818364, essv6929281, essv6889202, essv6952040, essv6793525, essv6747958, essv6759227, essv6704039, essv6840158, essv6917647, essv6942021, essv6972728
SamplesSSM010, SSM065, SSM007, SSM092, SSM013, SSM053, SSM082, SSM033, SSM084, SSM061, SSM042, SSM040, SSM043, SSM089, SSM064, SSM031, SSM072, SSM020, SSM071, SSM032, SSM039, SSM045, SSM083, SSM050, SSM097, SSM041, SSM077, SSM100, SSM056, SSM085, SSM017, SSM066, SSM028, SSM029, SSM047, SSM069, SSM021, SSM037, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM008, SSM098, SSM018, SSM076, SSM070
Known GenesSMYD3
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)esv2727340
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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