A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303029



Internal ID15149977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19098475..19098564hg38UCSC Ensembl
Innerchr7:19098519..19098519hg38UCSC Ensembl
Outerchr7:19098375..19098664hg38UCSC Ensembl
chr7:19138098..19138187hg19UCSC Ensembl
Innerchr7:19138142..19138142hg19UCSC Ensembl
Outerchr7:19137998..19138287hg19UCSC Ensembl
chr7:19104623..19104712hg18UCSC Ensembl
Innerchr7:19104667..19104667hg18UCSC Ensembl
Outerchr7:19104523..19104812hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735186, essv7734186, essv7738885, essv7736779
SamplesNA18947, NA18603, NA18526, NA18952
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303029
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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