A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1394e199



Internal ID22759167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8817894..8820841hg38UCSC Ensembl
chrX:8785935..8788882hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676276, esv2674783
SamplesNA12842, HG00249, HG00242, NA20808, NA20507, NA12400, NA12155, HG00327, NA20798, NA19678, HG00243, HG01069, HG00262, HG00323, HG00137, HG01384, HG01149, HG00373, NA18858, HG00353, HG00136, HG00237, HG00319, NA18943, NA19129, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1394e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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