A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15599899



Internal ID1603555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5239908..5253366hg38UCSC Ensembl
Innerchr17:5240408..5252866hg38UCSC Ensembl
Outerchr17:5238908..5254366hg38UCSC Ensembl
chr17:5143203..5156661hg19UCSC Ensembl
Innerchr17:5143703..5156161hg19UCSC Ensembl
Outerchr17:5142203..5157661hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813459
hg1913459
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639809
Supporting Variants
SamplesHG01489
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15599899
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