A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118988



Internal ID4120804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46227941..46507334hg38UCSC Ensembl
Innerchr11:46228091..46507184hg38UCSC Ensembl
Outerchr11:46227791..46507484hg38UCSC Ensembl
chr11:46249492..46528884hg19UCSC Ensembl
Innerchr11:46249642..46528734hg19UCSC Ensembl
Outerchr11:46249342..46529034hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38279394
hg19279393
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626183
Supporting Variants
SamplesHG02634
Known GenesAMBRA1, CHRM4, CREB3L1, DGKZ, MDK, MIR3160-1, MIR3160-2, MIR4688
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118988
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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