A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627636



Internal ID7014464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106748751..106751606hg38UCSC Ensembl
Innerchr11:106748751..106751606hg38UCSC Ensembl
Outerchr11:106748479..106751864hg38UCSC Ensembl
chr11:106619477..106622332hg19UCSC Ensembl
Innerchr11:106619477..106622332hg19UCSC Ensembl
Outerchr11:106619205..106622590hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382856
hg192856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14273261, essv14273255, essv14273254, essv14273267, essv14273249, essv14273263, essv14273264, essv14273265, essv14273257, essv14273262, essv14273258, essv14273250, essv14273260, essv14273266, essv14273252, essv14273253, essv14273259, essv14273251, essv14273256
SamplesHG01412, NA20766, HG03895, HG01365, HG03897, HG02597, NA11994, HG03784, HG01784, HG02775, NA12144, HG02031, HG03870, NA12874, HG04003, HG00339, HG01395, HG02238, HG01111
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627636
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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