A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6243n54



Internal ID20139667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7033954..7061142hg38UCSC Ensembl
chr19:7033965..7061153hg19UCSC Ensembl
chr19:6984965..7012153hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3827189
hg1927189
hg1827189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578491, nsv578493, nsv578492, nsv578496, nsv578494
Samples
Known GenesMBD3L2, MBD3L3, MBD3L4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6243n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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