A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447119



Internal ID15294069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52853987..52856485hg38UCSC Ensembl
Innerchr19:52854987..52855485hg38UCSC Ensembl
Outerchr19:52852987..52857485hg38UCSC Ensembl
chr19:53357240..53359738hg19UCSC Ensembl
Innerchr19:53358240..53358738hg19UCSC Ensembl
Outerchr19:53356240..53360738hg19UCSC Ensembl
chr19:58049052..58051550hg18UCSC Ensembl
Innerchr19:58050052..58050550hg18UCSC Ensembl
Outerchr19:58048052..58052550hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691626
SamplesNA19240
Known GenesZNF468
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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