A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633803



Internal ID6673922
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14942274, essv14942275
SamplesHG02082, HG01865
Known GenesNEDD8, NEDD8-MDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633803
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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