A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075187



Internal ID2296871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49147706..49163844hg38UCSC Ensembl
chr19:49650963..49667101hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816139
hg1916139
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644616
Supporting Variants
SamplesHG02051
Known GenesHRC, PPFIA3, TRPM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075187
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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