A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv298e199



Internal ID22758071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64623527..64624730hg38UCSC Ensembl
chr12:65017307..65018510hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662733, esv2659793
SamplesNA18502, NA18947, NA18507, NA18486, NA20346, NA18870, NA19319, NA18489, NA19239, NA19985, NA18638, NA19908, NA19210, NA19391, NA18579, NA19160, NA18858, NA20296, NA19440, NA19240, NA19223, NA19713, NA18522
Known GenesRASSF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv298e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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