A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640742



Internal ID7027516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49905945..49908984hg38UCSC Ensembl
Innerchr17:49905990..49908940hg38UCSC Ensembl
Outerchr17:49905901..49909029hg38UCSC Ensembl
chr17:47983309..47986348hg19UCSC Ensembl
Innerchr17:47983354..47986304hg19UCSC Ensembl
Outerchr17:47983265..47986393hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383040
hg193040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15694883
SamplesHG02035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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