A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691399



Internal ID13666504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60052..77450hg38UCSC Ensembl
Innerchr19:61052..76450hg38UCSC Ensembl
Outerchr19:60001..78450hg38UCSC Ensembl
chr19:60052..77450hg19UCSC Ensembl
Innerchr19:61052..76450hg19UCSC Ensembl
Outerchr19:60001..78450hg19UCSC Ensembl
chr19:11052..28450hg18UCSC Ensembl
Innerchr19:12052..27450hg18UCSC Ensembl
Outerchr19:10052..29450hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3817399
hg1917399
hg1817399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3386920
Supporting Variants
SamplesNA12878
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691399
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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