A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16063169



Internal ID6559811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43673606..43679492hg38UCSC Ensembl
chr19:44177758..44183644hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644473
Supporting Variants
SamplesNA20756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16063169
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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