A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv288e199



Internal ID22758061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44879360..44889753hg38UCSC Ensembl
chr12:45273143..45283536hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810394
hg1910394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677604, esv2676908
SamplesNA19466, NA19381, NA19382, HG01167, NA19457, NA19904, NA19380, NA19376, NA19346
Known GenesNELL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv288e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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