A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002730



Internal ID2542527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16195112..16204140hg38UCSC Ensembl
chr19:16305923..16314951hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg389029
hg199029
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643792
Supporting Variants
SamplesHG02259
Known GenesAP1M1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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