A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622242



Internal ID7009101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6171155..6185747hg38UCSC Ensembl
Innerchr10:6171305..6185597hg38UCSC Ensembl
Outerchr10:6171005..6185897hg38UCSC Ensembl
chr10:6213118..6227710hg19UCSC Ensembl
Innerchr10:6213268..6227560hg19UCSC Ensembl
Outerchr10:6212968..6227860hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3814593
hg1914593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13687342, essv13687343, essv13687341, essv13687344
SamplesHG00622, HG01668, NA19056, NA19083
Known GenesPFKFB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622242
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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