A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092141



Internal ID5093957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87925163..87956836hg38UCSC Ensembl
Innerchr14:87925165..87956835hg38UCSC Ensembl
Outerchr14:87925162..87956838hg38UCSC Ensembl
chr14:88391507..88423180hg19UCSC Ensembl
Innerchr14:88391509..88423179hg19UCSC Ensembl
Outerchr14:88391506..88423182hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3831674
hg1931674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635268
Supporting Variants
SamplesNA11840
Known GenesGALC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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