A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv700e199



Internal ID20124002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54517049..54517477hg38UCSC Ensembl
chr2:54744186..54744614hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662665, esv2675629
SamplesNA18861, NA11920, HG01066, NA19190, NA18916, NA11994, HG00159, NA18566, NA19099, NA19398, NA12749, NA19474, NA19116, NA19129
Known GenesSPTBN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv700e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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