A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302920



Internal ID15149868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869203..148869802hg38UCSC Ensembl
Innerchr7:148869303..148869702hg38UCSC Ensembl
Outerchr7:148869103..148869902hg38UCSC Ensembl
chr7:148566295..148566894hg19UCSC Ensembl
Innerchr7:148566395..148566794hg19UCSC Ensembl
Outerchr7:148566195..148566994hg19UCSC Ensembl
chr7:148197228..148197827hg18UCSC Ensembl
Innerchr7:148197328..148197727hg18UCSC Ensembl
Outerchr7:148197128..148197927hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3990e59
Supporting Variantsessv7737857, essv7732327, essv7738732, essv7735995, essv7735610, essv7733659, essv7734632, essv7732064, essv7732634, essv7735301, essv7738576, essv7736216, essv7735520, essv7735128
SamplesNA18504, NA18489, NA18498, NA18520, NA19239, NA18871, NA18907, NA18499, NA18912, NA18523, NA18909, NA19240, NA18505, NA18511
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302920
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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