A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv578e199



Internal ID20123880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3635219..3637051hg38UCSC Ensembl
chr18:3635218..3637050hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381833
hg191833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666773, esv2672610, esv2663843
SamplesNA18621, HG01440, NA18534, HG00705, HG01342, HG00565, HG00736, NA19072, NA19455, NA19334, NA19010, HG00683, NA19355, NA18950, NA19390, NA18622, NA18990, HG00689, NA19256, NA19075, NA18634, HG00237, HG01437, NA19189, NA19759, NA19372, HG00560, NA18558, NA19901, NA18942, HG00513, NA18543, NA18619, NA19729, NA19723, HG00611, HG00650, NA18565, NA18560, NA18989, NA18614, HG00656, NA18574, HG01374, HG00473, NA19087, HG00702, NA18553
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv578e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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