A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718629



Internal ID10302265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158757099..158758206hg38UCSC Ensembl
Outerchr1:158726889..158727996hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381108
hg191108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722101, essv6804498, essv6825105, essv6793416, essv6686241, essv6669137, essv6749620, essv6840078, essv6933416, essv6742240, essv6847205, essv6889112, essv6914088, essv6759149, essv6871801, essv6883330, essv6816730, essv6844854, essv6886068, essv6895937, essv6925797, essv6937793, essv6769639, essv6813261, essv6832695, essv6921850, essv6929182, essv6710691
SamplesSSM008, SSM071, SSM045, SSM011, SSM065, SSM097, SSM074, SSM042, SSM084, SSM021, SSM018, SSM061, SSM096, SSM019, SSM035, SSM031, SSM086, SSM082, SSM020, SSM078, SSM016, SSM053, SSM080, SSM077, SSM022, SSM091, SSM095, SSM099
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)esv2718629
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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