A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16005730



Internal ID6007546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19653480..19657079hg38UCSC Ensembl
chr19:19764289..19767888hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643853
Supporting Variants
SamplesHG02090
Known GenesATP13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16005730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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