A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390739



Internal ID15237706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7700461..7700480hg38UCSC Ensembl
Innerchr20:7700457..7700484hg38UCSC Ensembl
Outerchr20:7700438..7700503hg38UCSC Ensembl
chr20:7681108..7681127hg19UCSC Ensembl
Innerchr20:7681104..7681131hg19UCSC Ensembl
Outerchr20:7681085..7681150hg19UCSC Ensembl
chr20:7629108..7629127hg18UCSC Ensembl
Innerchr20:7629131..7629104hg18UCSC Ensembl
Outerchr20:7629085..7629150hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9678358, essv9678347
SamplesNA19141, NA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390739
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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