A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446763



Internal ID15293713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12784238..12785736hg38UCSC Ensembl
Innerchr19:12784736..12785238hg38UCSC Ensembl
Outerchr19:12783238..12786736hg38UCSC Ensembl
chr19:12895052..12896550hg19UCSC Ensembl
Innerchr19:12895550..12896052hg19UCSC Ensembl
Outerchr19:12894052..12897550hg19UCSC Ensembl
chr19:12756052..12757550hg18UCSC Ensembl
Innerchr19:12757052..12756550hg18UCSC Ensembl
Outerchr19:12755052..12758550hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1988e59
Supporting Variantsessv8691401
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446763
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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