A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968884



Internal ID5970700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1989080..1999559hg38UCSC Ensembl
chr19:1989079..1999558hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810480
hg1910480
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643417
Supporting Variants
SamplesHG00131
Known GenesBTBD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968884
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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