A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599597



Internal ID6639861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9910349..9912706hg38UCSC Ensembl
Innerchr4:9910399..9912656hg38UCSC Ensembl
Outerchr4:9910257..9912798hg38UCSC Ensembl
chr4:9911973..9914330hg19UCSC Ensembl
Innerchr4:9912023..9914280hg19UCSC Ensembl
Outerchr4:9911881..9914422hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382358
hg192358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11352468
SamplesHG03709
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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