A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16078612



Internal ID4477520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50752126..50762910hg38UCSC Ensembl
chr19:51255383..51266167hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810785
hg1910785
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644651
Supporting Variants
SamplesHG03977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16078612
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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