A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629486



Internal ID7016308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50751758..50753805hg38UCSC Ensembl
Innerchr12:50751766..50753798hg38UCSC Ensembl
Outerchr12:50751751..50753813hg38UCSC Ensembl
chr12:51145541..51147588hg19UCSC Ensembl
Innerchr12:51145549..51147581hg19UCSC Ensembl
Outerchr12:51145534..51147596hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479926, essv14479930, essv14479937, essv14479935, essv14479919, essv14479933, essv14479924, essv14479918, essv14479925, essv14479917, essv14479932, essv14479931, essv14479922, essv14479929, essv14479938, essv14479921, essv14479920, essv14479936, essv14479934, essv14479923, essv14479927, essv14479928
SamplesHG02002, HG01465, HG01486, HG01971, HG01350, HG01953, HG01892, HG01550, HG01183, HG01136, HG01435, HG02102, HG01921, HG01130, NA19752, NA19761, HG01936, NA19749, HG02304, HG01974, HG01933, HG01468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629486
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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