A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742917



Internal ID9977201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7829415..7830304hg38UCSC Ensembl
Outerchr1:7889475..7890364hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937667, essv6721994, essv6710571, essv6707254, essv6910030, essv6950538, essv6967916, essv6941771, essv6954725, essv6776926, essv6917412, essv6797437, essv6892309, essv6832588, essv6925679, essv6828992, essv6895839, essv6675191, essv6813161, essv6679152, essv6874692, essv6843874, essv6766531, essv6729608, essv6816632, essv6876643, essv6668928, essv6821169, essv6824969, essv6748198, essv6961539, essv6871705, essv6769507, essv6853219, essv6789139, essv6801611, essv6793271, essv6725841, essv6868702, essv6950117, essv6839961, essv6780856, essv6718157, essv6933296, essv6929049, essv6916584, essv6913989, essv6692749, essv6846996, essv6807362, essv6784476, essv6902520, essv6773425, essv6972321
SamplesSSM010, SSM065, SSM022, SSM027, SSM092, SSM013, SSM082, SSM086, SSM091, SSM033, SSM084, SSM099, SSM042, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM045, SSM067, SSM041, SSM077, SSM012, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM073, SSM021, SSM037, SSM087, SSM046, SSM019, SSM023, SSM079, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM081, SSM070, SSM080
Known GenesPER3
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)esv2742917
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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