A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595171



Internal ID4689413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4684802..4686619hg38UCSC Ensembl
Innerchr17:4684839..4686583hg38UCSC Ensembl
Outerchr17:4684766..4686656hg38UCSC Ensembl
chr17:4588097..4589914hg19UCSC Ensembl
Innerchr17:4588134..4589878hg19UCSC Ensembl
Outerchr17:4588061..4589951hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381818
hg191818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639793
Supporting Variants
SamplesHG04211
Known GenesPELP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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