A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428176



Internal ID15275132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46217106..46218104hg38UCSC Ensembl
Innerchr20:46217105..46218105hg38UCSC Ensembl
Outerchr20:46216106..46219104hg38UCSC Ensembl
chr20:44845745..44846743hg19UCSC Ensembl
Innerchr20:44845744..44846744hg19UCSC Ensembl
Outerchr20:44844745..44847743hg19UCSC Ensembl
chr20:44279152..44280150hg18UCSC Ensembl
Innerchr20:44280151..44279151hg18UCSC Ensembl
Outerchr20:44278152..44281150hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2434e59
Supporting Variantsessv8692554
SamplesNA19238
Known GenesCDH22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428176
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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