A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725278



Internal ID10308914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52675801..52676150hg38UCSC Ensembl
Outerchr3:52709817..52710166hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6889497, essv6785601, essv6914445, essv6844346, essv6922325, essv6896229, essv6813640, essv6973416, essv6793872, essv6880825, essv6840514, essv6942447, essv6938230, essv6686597, essv6847916, essv6773957, essv6669869, essv6683303, essv6697386, essv6722538, essv6848732, essv6947068, essv6899054, essv6807819, essv6707746, essv6804846, essv6689751, essv6929670, essv6704324, essv6854087, essv6770092, essv6789730
SamplesSSM100, SSM036, SSM071, SSM024, SSM075, SSM045, SSM011, SSM065, SSM087, SSM038, SSM097, SSM074, SSM041, SSM023, SSM084, SSM018, SSM069, SSM029, SSM035, SSM094, SSM031, SSM086, SSM066, SSM085, SSM040, SSM020, SSM016, SSM077, SSM022, SSM070, SSM034, SSM099
Known GenesPBRM1
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)esv2725278
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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