A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88e199



Internal ID22757861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196791346..196933087hg38UCSC Ensembl
chr1:196760476..196902217hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38141742
hg19141742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667723, esv2669425, esv2661771, esv2670016
SamplesHG00650, NA18602, NA18618, NA19384, HG00683, NA19456, HG01124, HG00533, HG00651, NA18634, HG00258, NA18873
Known GenesCFHR1, CFHR3, CFHR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv88e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer