A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15609505



Internal ID5611321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8810120..8811975hg38UCSC Ensembl
Innerchr17:8810120..8811975hg38UCSC Ensembl
Outerchr17:8809643..8812440hg38UCSC Ensembl
chr17:8713438..8715293hg19UCSC Ensembl
Innerchr17:8713438..8715293hg19UCSC Ensembl
Outerchr17:8712961..8715758hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639894
Supporting Variants
SamplesHG01846
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15609505
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