A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116496



Internal ID4118312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44858716..44866586hg38UCSC Ensembl
Innerchr11:44858716..44866586hg38UCSC Ensembl
Outerchr11:44858485..44866777hg38UCSC Ensembl
chr11:44880267..44888137hg19UCSC Ensembl
Innerchr11:44880267..44888137hg19UCSC Ensembl
Outerchr11:44880036..44888328hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387871
hg197871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626170
Supporting Variants
SamplesHG02786
Known GenesTSPAN18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116496
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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