A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6218n54



Internal ID20139642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2221793..2336009hg38UCSC Ensembl
chr19:2221792..2336008hg19UCSC Ensembl
chr19:2172792..2287008hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38114217
hg19114217
hg18114217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578385, nsv578384
Samples
Known GenesAMH, C19orf35, DOT1L, JSRP1, LINGO3, LSM7, MIR1227, MIR4321, MIR6789, OAZ1, PLEKHJ1, SF3A2, SPPL2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6218n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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