A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093258



Internal ID5095074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90382200..90607667hg38UCSC Ensembl
chr14:90848544..91074011hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38225468
hg19225468
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635309
Supporting Variants
SamplesNA06984
Known GenesCALM1, LINC00642, TTC7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093258
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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