A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692591



Internal ID15068479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61424001..61424599hg38UCSC Ensembl
Innerchr20:61424000..61424600hg38UCSC Ensembl
Outerchr20:61423001..61425599hg38UCSC Ensembl
chr20:59999057..59999655hg19UCSC Ensembl
Innerchr20:59999056..59999656hg19UCSC Ensembl
Outerchr20:59998057..60000655hg19UCSC Ensembl
chr20:59432452..59433050hg18UCSC Ensembl
Innerchr20:59433051..59432451hg18UCSC Ensembl
Outerchr20:59431452..59434050hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330869
Supporting Variants
SamplesNA19239
Known GenesCDH4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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