A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv567e199



Internal ID22758340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095691..75097038hg38UCSC Ensembl
chr17:73091786..73093133hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664007, esv2665532
SamplesNA19703, HG01066, HG00306, HG00151, NA19359, NA19355, NA20332, NA19920, NA19374, NA19396, HG01177, HG01488, HG01365, HG00243, HG01067, HG00739, HG00108, NA18933, NA19327, HG01197, HG00265, NA20341, NA19398, NA19223, HG01055, HG00112, NA19711, NA19463, HG01097, NA18487
Known GenesSLC16A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv567e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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