A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003669



Internal ID6005485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17331902..17338827hg38UCSC Ensembl
chr19:17442711..17449636hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386926
hg196926
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643818
Supporting Variants
SamplesNA20758
Known GenesANO8, GTPBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003669
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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