A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746778



Internal ID14904269
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 StatusS
Merged Variantsesv3304714
Supporting Variants
SamplesNA19138
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746778
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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