A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634480



Internal ID7021283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50520105..50523069hg38UCSC Ensembl
Innerchr14:50520105..50523069hg38UCSC Ensembl
Outerchr14:50519922..50523245hg38UCSC Ensembl
chr14:50986823..50989787hg19UCSC Ensembl
Innerchr14:50986823..50989787hg19UCSC Ensembl
Outerchr14:50986640..50989963hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382965
hg192965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005315
SamplesHG01440
Known GenesMAP4K5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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