A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692553



Internal ID15068237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46217106..46218004hg38UCSC Ensembl
Innerchr20:46217105..46218005hg38UCSC Ensembl
Outerchr20:46216106..46219004hg38UCSC Ensembl
chr20:44845745..44846643hg19UCSC Ensembl
Innerchr20:44845744..44846644hg19UCSC Ensembl
Outerchr20:44844745..44847643hg19UCSC Ensembl
chr20:44279152..44280050hg18UCSC Ensembl
Innerchr20:44280051..44279151hg18UCSC Ensembl
Outerchr20:44278152..44281050hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446053
Supporting Variants
SamplesNA19239
Known GenesCDH22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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