A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9678358



Internal ID14911402
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 StatusS
Merged Variantsesv3390739
Supporting Variants
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9678358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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