A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692590



Internal ID15068492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61311801..61312599hg38UCSC Ensembl
Innerchr20:61311800..61312600hg38UCSC Ensembl
Outerchr20:61310801..61313599hg38UCSC Ensembl
chr20:59886857..59887655hg19UCSC Ensembl
Innerchr20:59886856..59887656hg19UCSC Ensembl
Outerchr20:59885857..59888655hg19UCSC Ensembl
chr20:59320252..59321050hg18UCSC Ensembl
Innerchr20:59321051..59320251hg18UCSC Ensembl
Outerchr20:59319252..59322050hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393260
Supporting Variants
SamplesNA19239
Known GenesCDH4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692590
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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