A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15604126



Internal ID5605942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7292786..7322537hg38UCSC Ensembl
chr17:7196105..7225856hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3829752
hg1929752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639865
Supporting Variants
SamplesHG02489
Known GenesEIF5A, GPS2, NEURL4, YBX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15604126
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