A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749274



Internal ID10330244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65670022..65670361hg38UCSC Ensembl
Outerchr1:66135705..66136044hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825026, essv6669019, essv6892360, essv6682863, essv6780930, essv6874740, essv6689298, essv6853302, essv6810373, essv6954820, essv6864006, essv6895880, essv6847090, essv6886014
SamplesSSM036, SSM087, SSM092, SSM096, SSM026, SSM089, SSM031, SSM086, SSM068, SSM080, SSM076, SSM034, SSM099, SSM098
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)esv2749274
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer