A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11352468



Internal ID1354284
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599597
Supporting Variants
SamplesHG03709
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11352468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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