A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107819



Internal ID5544744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100211589..100223868hg38UCSC Ensembl
chr14:100677926..100690205hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3812280
hg1912280
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635500
Supporting Variants
SamplesNA19003
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107819
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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