A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11820089



Internal ID1075787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16528043..16532981hg38UCSC Ensembl
chr5:16528152..16533090hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg384939
hg194939
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604132
Supporting Variants
SamplesHG00699
Known GenesFAM134B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11820089
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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