A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15686262



Internal ID5688078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47304736..47307029hg38UCSC Ensembl
Innerchr17:47304886..47306879hg38UCSC Ensembl
Outerchr17:47304586..47307179hg38UCSC Ensembl
chr17:45382102..45384395hg19UCSC Ensembl
Innerchr17:45382252..45384245hg19UCSC Ensembl
Outerchr17:45381952..45384545hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640696
Supporting Variants
SamplesHG02887
Known GenesITGB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15686262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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