A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644126



Internal ID7030882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29676979..29682964hg38UCSC Ensembl
Innerchr19:29677020..29682923hg38UCSC Ensembl
Outerchr19:29676938..29683005hg38UCSC Ensembl
chr19:30167886..30173871hg19UCSC Ensembl
Innerchr19:30167927..30173830hg19UCSC Ensembl
Outerchr19:30167845..30173912hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385986
hg195986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16032724, essv16032725
SamplesHG00306, NA19625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644126
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer