A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631950



Internal ID7018760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45293791..45294733hg38UCSC Ensembl
Innerchr13:45293813..45294711hg38UCSC Ensembl
Outerchr13:45293769..45294755hg38UCSC Ensembl
chr13:45867926..45868868hg19UCSC Ensembl
Innerchr13:45867948..45868846hg19UCSC Ensembl
Outerchr13:45867904..45868890hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710799, essv14710798, essv14710800, essv14710804, essv14710815, essv14710801, essv14710807, essv14710818, essv14710795, essv14710809, essv14710816, essv14710802, essv14710812, essv14710817, essv14710813, essv14710796, essv14710811, essv14710803, essv14710810, essv14710797, essv14710805, essv14710808, essv14710806, essv14710794, essv14710814
SamplesHG00142, HG00233, HG00244, NA20805, NA12058, NA19669, NA20806, HG04059, NA20796, HG01167, HG02085, NA20539, HG03986, HG01527, HG02420, HG00326, HG00731, HG01047, HG03713, HG03631, HG00146, HG02282, HG02223, HG00319, HG03646
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631950
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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