A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11690014



Internal ID1691830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169419454..169424518hg38UCSC Ensembl
Innerchr4:169419954..169424018hg38UCSC Ensembl
Outerchr4:169418454..169425518hg38UCSC Ensembl
chr4:170340605..170345669hg19UCSC Ensembl
Innerchr4:170341105..170345169hg19UCSC Ensembl
Outerchr4:170339605..170346669hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg385065
hg195065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603120
Supporting Variants
SamplesNA18912
Known GenesNEK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11690014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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