A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292663



Internal ID4294479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310196..117312217hg38UCSC Ensembl
Innerchr11:117310199..117312215hg38UCSC Ensembl
Outerchr11:117310194..117312220hg38UCSC Ensembl
chr11:117180912..117182933hg19UCSC Ensembl
Innerchr11:117180915..117182931hg19UCSC Ensembl
Outerchr11:117180910..117182936hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627847
Supporting Variants
SamplesHG00689
Known GenesBACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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