A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv796e199



Internal ID22758569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53836466..53836969hg38UCSC Ensembl
chr20:52453005..52453508hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670636, esv2678355
SamplesHG00114, NA18924, HG00151, NA12045, NA19359, NA19684, NA19377, NA20346, NA12400, NA07346, NA19374, HG00641, HG00138, NA19373, NA18489, NA19916, HG01365, HG00281, HG00139, NA12282, HG01067, HG00120, NA19372, NA19725, NA18520, NA20127, NA18867, HG01171, NA20521, NA12718, HG01073, NA19469, NA19395, HG01107, NA19436, NA19440, NA20801, NA19712, NA19473, NA07051, NA19439, NA19324, HG00256, NA20334, NA19713, NA11843, NA19129, NA07000, NA19431, HG01516
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv796e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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