A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727340

Internal ID9961649
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246395354..246396142hg38UCSC Ensembl
Outerchr1:246558656..246559444hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727340
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0

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