A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14286896



Internal ID4288712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111293474..111297507hg38UCSC Ensembl
Innerchr11:111293474..111297507hg38UCSC Ensembl
Outerchr11:111293221..111297727hg38UCSC Ensembl
chr11:111164199..111168232hg19UCSC Ensembl
Innerchr11:111164199..111168232hg19UCSC Ensembl
Outerchr11:111163946..111168452hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg384034
hg194034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627733
Supporting Variants
SamplesNA18977
Known GenesCOLCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14286896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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