A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14278416



Internal ID4280232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108509006..108580807hg38UCSC Ensembl
chr11:108379733..108451534hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3871802
hg1971802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627679
Supporting Variants
SamplesHG00692
Known GenesEXPH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14278416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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