A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599499



Internal ID6986545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6138330..6141503hg38UCSC Ensembl
Innerchr4:6138330..6141503hg38UCSC Ensembl
Outerchr4:6138279..6141655hg38UCSC Ensembl
chr4:6140057..6143230hg19UCSC Ensembl
Innerchr4:6140057..6143230hg19UCSC Ensembl
Outerchr4:6140006..6143382hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383174
hg193174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11327885, essv11327889, essv11327886, essv11327888, essv11327890, essv11327887
SamplesNA19917, HG02420, HG02427, HG02450, NA19099, NA19346
Known GenesJAKMIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599499
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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