A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746974



Internal ID10327944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36740195..36741002hg38UCSC Ensembl
Outerchr1:37205796..37206603hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921748, essv6829029, essv6803265, essv6699616, essv6748698, essv6725868, essv6892336, essv6967960, essv6853268, essv6906817, essv6877098, essv6816920, essv6906111, essv6789181, essv6744961, essv6753517, essv6738828, essv6766568, essv6710612, essv6714278, essv6668984, essv6718179, essv6880435, essv6807388, essv6785012, essv6692797, essv6859215, essv6847050, essv6769550, essv6950440, essv6871734, essv6954780, essv6697002, essv6679194, essv6836208, essv6961593, essv6868733, essv6722026, essv6703884, essv6742160, essv6917464, essv6863978, essv6916974, essv6784876, essv6735991, essv6669421, essv6750626, essv6729648, essv6707283
SamplesSSM008, SSM083, SSM027, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM038, SSM039, SSM009, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM090, SSM047, SSM018, SSM069, SSM026, SSM089, SSM017, SSM094, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM081, SSM040, SSM053, SSM005, SSM037, SSM010, SSM091, SSM055, SSM070, SSM004, SSM043, SSM052, SSM098, SSM012
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)esv2746974
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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