A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14973880



Internal ID4694144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38831375..38835566hg38UCSC Ensembl
Innerchr14:38831375..38835566hg38UCSC Ensembl
Outerchr14:38831086..38835649hg38UCSC Ensembl
chr14:39300579..39304770hg19UCSC Ensembl
Innerchr14:39300579..39304770hg19UCSC Ensembl
Outerchr14:39300290..39304853hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg384192
hg194192
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634131
Supporting Variants
SamplesHG04214
Known GenesLINC00639
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14973880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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