A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9134n54



Internal ID22777029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:74147724..74240768hg38UCSC Ensembl
chr4:75013441..75106485hg19UCSC Ensembl
chr4:75232305..75325349hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3893045
hg1993045
hg1893045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594683, nsv594684
Samples
Known GenesMTHFD2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9134n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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