A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv25e199



Internal ID18982079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19270091..19287665hg38UCSC Ensembl
chr1:19596585..19614159hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3817575
hg1917575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2659057, esv2663537
SamplesHG01441, NA19445, NA11930, NA18523, NA19072, NA19461, NA19834, HG00253, NA20340, HG00543, HG01107, HG00637, NA19213, NA19374, NA20344, NA19704, NA19235, NA10851, NA19755, NA19452, HG00422, HG00693, HG00320
Known GenesAKR7A3, AKR7L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv25e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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