A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692520



Internal ID15032673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30345915..30404313hg38UCSC Ensembl
Innerchr20:30346915..30403313hg38UCSC Ensembl
Outerchr20:30344915..30405313hg38UCSC Ensembl
chr20:29580591..29638989hg19UCSC Ensembl
Innerchr20:29581591..29637989hg19UCSC Ensembl
Outerchr20:29579591..29639989hg19UCSC Ensembl
chr20:28194252..28252650hg18UCSC Ensembl
Innerchr20:28195252..28251650hg18UCSC Ensembl
Outerchr20:28193252..28253650hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg3858399
hg1958399
hg1858399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3359503
Supporting Variants
SamplesNA19238
Known GenesFRG1B, MLLT10P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692520
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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