A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15749480



Internal ID5582868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78285381..78291262hg38UCSC Ensembl
Innerchr17:78285440..78291204hg38UCSC Ensembl
Outerchr17:78285323..78291321hg38UCSC Ensembl
chr17:76281462..76287343hg19UCSC Ensembl
Innerchr17:76281521..76287285hg19UCSC Ensembl
Outerchr17:76281404..76287402hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385882
hg195882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641328
Supporting Variants
SamplesNA19025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15749480
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