A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14942274



Internal ID4944090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24226268..24227870hg38UCSC Ensembl
Innerchr14:24226279..24227859hg38UCSC Ensembl
Outerchr14:24226257..24227881hg38UCSC Ensembl
chr14:24695474..24697076hg19UCSC Ensembl
Innerchr14:24695485..24697065hg19UCSC Ensembl
Outerchr14:24695463..24697087hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633803
Supporting Variants
SamplesHG01865
Known GenesNEDD8, NEDD8-MDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14942274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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