A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv696e199



Internal ID22758469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46925447..46931757hg38UCSC Ensembl
chr2:47152586..47158896hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386311
hg196311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670668, esv2659160
SamplesHG00512, NA18539, HG00584
Known GenesMCFD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv696e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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