A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304714



Internal ID15151662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6594855..6594856hg38UCSC Ensembl
Innerchr20:6594823..6594888hg38UCSC Ensembl
Outerchr20:6594822..6594889hg38UCSC Ensembl
chr20:6575502..6575503hg19UCSC Ensembl
Innerchr20:6575470..6575535hg19UCSC Ensembl
Outerchr20:6575469..6575536hg19UCSC Ensembl
chr20:6523502..6523503hg18UCSC Ensembl
Innerchr20:6523535..6523470hg18UCSC Ensembl
Outerchr20:6523469..6523536hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755917, essv7746778, essv7760298, essv7754924, essv7763202, essv7741823
SamplesNA18502, NA19138, NA18907, NA18523, NA19102, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304714
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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