A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13383319



Internal ID3385135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4503000..4539232hg38UCSC Ensembl
chr9:4503000..4539232hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3836233
hg1936233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619348
Supporting Variants
SamplesHG03788
Known GenesSLC1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13383319
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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