A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735186



Internal ID14527280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19098519..19098520hg38UCSC Ensembl
Outerchr7:19098376..19098664hg38UCSC Ensembl
Innerchr7:19138142..19138143hg19UCSC Ensembl
Outerchr7:19137999..19138287hg19UCSC Ensembl
Innerchr7:19104668..19104667hg18UCSC Ensembl
Outerchr7:19104524..19104812hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303029
Supporting Variants
SamplesNA18947
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735186
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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