A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15894080



Internal ID5028560
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642646
Supporting Variants
SamplesNA18519
Known GenesNEDD4L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15894080
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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