A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642646



Internal ID7029415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58351293..58439147hg38UCSC Ensembl
chr18:56018525..56106379hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3887855
hg1987855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15894080
SamplesNA18519
Known GenesNEDD4L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642646
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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