A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6258n54



Internal ID20139682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8487389..8564616hg38UCSC Ensembl
chr19:8552273..8629500hg19UCSC Ensembl
chr19:8458273..8535500hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3877228
hg1977228
hg1877228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578560, nsv578561
Samples1780862300_A, 1780862306_A, 1780862415_A
Known GenesHNRNPM, MYO1F, PRAM1, ZNF414
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6258n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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