A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093256



Internal ID1718002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90253994..90255530hg38UCSC Ensembl
Innerchr14:90254008..90255516hg38UCSC Ensembl
Outerchr14:90253980..90255544hg38UCSC Ensembl
chr14:90720338..90721874hg19UCSC Ensembl
Innerchr14:90720352..90721860hg19UCSC Ensembl
Outerchr14:90720324..90721888hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381537
hg191537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635308
Supporting Variants
SamplesHG01597
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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