A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718640



Internal ID10302276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158881502..158882317hg38UCSC Ensembl
Outerchr1:158851292..158852107hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729737, essv6933418, essv6840079, essv6797573, essv6785108, essv6738915, essv6921852, essv6807471, essv6914089, essv6929183, essv6692890, essv6714356, essv6679284, essv6703946, essv6689358, essv6972564, essv6847206, essv6825106, essv6804500, essv6968054, essv6773552, essv6937794, essv6699717, essv6941913, essv6821298, essv6917552, essv6813262, essv6954934, essv6902640, essv6961738, essv6769640, essv6871802
SamplesSSM036, SSM027, SSM075, SSM079, SSM065, SSM039, SSM013, SSM074, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM086, SSM033, SSM066, SSM040, SSM072, SSM020, SSM016, SSM080, SSM037, SSM077, SSM022, SSM091, SSM043, SSM052
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)esv2718640
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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