A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302512



Internal ID14802773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869196..148869764hg38UCSC Ensembl
Innerchr7:148869296..148869664hg38UCSC Ensembl
Outerchr7:148869096..148869864hg38UCSC Ensembl
chr7:148566288..148566856hg19UCSC Ensembl
Innerchr7:148566388..148566756hg19UCSC Ensembl
Outerchr7:148566188..148566956hg19UCSC Ensembl
chr7:148197221..148197789hg18UCSC Ensembl
Innerchr7:148197321..148197689hg18UCSC Ensembl
Outerchr7:148197121..148197889hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38569
hg19569
hg18569
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3990e59
Supporting Variantsessv7731558, essv7731297
SamplesNA19239, NA19240
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302512
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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