A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611807



Internal ID6998710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1429017..1434069hg38UCSC Ensembl
chr7:1468653..1473705hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385053
hg195053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12664472, essv12664473, essv12664468, essv12664465, essv12664461, essv12664462, essv12664470, essv12664466, essv12664467, essv12664474, essv12664464, essv12664469, essv12664471, essv12664463
SamplesNA18979, NA18641, NA20298, HG00452, NA12400, HG02301, HG00355, NA19038, NA18748, HG02082, HG02484, HG02089, NA19310, NA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611807
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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