A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635079



Internal ID6675193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80868616..80876285hg38UCSC Ensembl
Innerchr14:80868639..80876262hg38UCSC Ensembl
Outerchr14:80868593..80876308hg38UCSC Ensembl
chr14:81334960..81342629hg19UCSC Ensembl
Innerchr14:81334983..81342606hg19UCSC Ensembl
Outerchr14:81334937..81342652hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387670
hg197670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15077010, essv15077012, essv15077011
SamplesNA18645, HG02804, NA18599
Known GenesCEP128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635079
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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