A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586703



Internal ID6974221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86611375..86627254hg38UCSC Ensembl
Innerchr1:86611525..86627104hg38UCSC Ensembl
Outerchr1:86611225..86627404hg38UCSC Ensembl
chr1:87077058..87092937hg19UCSC Ensembl
Innerchr1:87077208..87092787hg19UCSC Ensembl
Outerchr1:87076908..87093087hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3815880
hg1915880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10008290, essv10008280, essv10008287, essv10008301, essv10008299, essv10008291, essv10008294, essv10008296, essv10008303, essv10008300, essv10008283, essv10008293, essv10008297, essv10008281, essv10008295, essv10008286, essv10008288, essv10008298, essv10008285, essv10008279, essv10008282, essv10008302, essv10008289, essv10008292, essv10008304, essv10008284
SamplesHG00524, HG01855, HG00150, HG02383, HG03937, HG00634, HG00610, HG01813, NA18748, HG02047, HG00629, HG01979, HG02364, HG00690, HG02086, HG00704, HG02408, HG00625, HG02019, HG01861, HG00707, HG00513, HG02401, HG02116, HG03916, HG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586703
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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