A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619348



Internal ID6659538
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13383319, essv13383320
SamplesHG03788, NA19682
Known GenesSLC1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619348
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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