A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678217



Internal ID2911304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41983136..41984255hg38UCSC Ensembl
Outerchr19:41983099..41984305hg38UCSC Ensembl
Innerchr19:42487288..42488407hg19UCSC Ensembl
Outerchr19:42487251..42488457hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5843377
SamplesHG01366
Known GenesATP1A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678217
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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