A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639793



Internal ID7026571
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15595171, essv15595170
SamplesHG04211, HG03600
Known GenesPELP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639793
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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