A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599595



Internal ID6639859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9842915..9846948hg38UCSC Ensembl
Innerchr4:9842943..9846921hg38UCSC Ensembl
Outerchr4:9842888..9846976hg38UCSC Ensembl
chr4:9844539..9848572hg19UCSC Ensembl
Innerchr4:9844567..9848545hg19UCSC Ensembl
Outerchr4:9844512..9848600hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384034
hg194034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11352444
SamplesHG03247
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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