A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735301



Internal ID13400101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148869304..148869702hg38UCSC Ensembl
Outerchr7:148869104..148869902hg38UCSC Ensembl
Innerchr7:148566396..148566794hg19UCSC Ensembl
Outerchr7:148566196..148566994hg19UCSC Ensembl
Innerchr7:148197329..148197727hg18UCSC Ensembl
Outerchr7:148197129..148197927hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302920
Supporting Variants
SamplesNA18489
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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