A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1000e59



Internal ID22762220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348687..51348856hg38UCSC Ensembl
chr13:51922823..51922992hg19UCSC Ensembl
chr13:50820824..50820993hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38170
hg19170
hg18170
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302761, esv3302601
SamplesNA18502, NA11995, NA18861, NA18592, NA18508, NA18507, NA11931, NA18603, NA19190, NA18870, NA18526, NA18510, NA07357, NA18563, NA19005, NA18944, NA18940, NA18519, NA18489, NA12891, NA18558, NA18942, NA18916, NA11918, NA12287, NA19138, NA18949, NA12156, NA19137, NA19238, NA11994, NA19239, NA18638, NA11831, NA18951, NA19210, NA12489, NA18956, NA18516, NA18579, NA18871, NA18907, NA18537, NA18566, NA18573, NA11919, NA18499, NA11894, NA18856, NA18912, NA18853, NA19099, NA19257, NA18523, NA18593, NA18945, NA18576, NA18608, NA18953, NA18542, NA18909, NA19108, NA18961, NA19147, NA18517, NA19240, NA07051, NA18943, NA07037, NA12763, NA06986, NA18501, NA19093, NA18609, NA19102, NA19129, NA07000, NA18522, NA12154, NA18562, NA12776, NA18965, NA18577
Known GenesSERPINE3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1000e59
Frequency
Sample Size185
Observed Gain83
Observed Loss0
Observed Complex0
Frequencyn/a


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