A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701754



Internal ID4339019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54417475..54493142hg38UCSC Ensembl
Innerchr17:54417517..54493100hg38UCSC Ensembl
Outerchr17:54417433..54493184hg38UCSC Ensembl
chr17:52494836..52570503hg19UCSC Ensembl
Innerchr17:52494878..52570461hg19UCSC Ensembl
Outerchr17:52494794..52570545hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3875668
hg1975668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640820
Supporting Variants
SamplesHG03882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701754
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer