A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6242n54



Internal ID20139666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7032886..7061142hg38UCSC Ensembl
chr19:7032897..7061153hg19UCSC Ensembl
chr19:6983897..7012153hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3828257
hg1928257
hg1828257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578488, nsv578489
Samples
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6242n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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