A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv334e199



Internal ID20123636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19200385..19718844hg38UCSC Ensembl
chr13:19774525..20292984hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38518460
hg19518460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667406, esv2658575
SamplesNA19332, HG01066, HG00449, NA19660, HG00589, HG01440, HG00731, HG01360, HG00692, HG00284, NA19682, HG01148, NA19334, HG01342
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv334e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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