A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337149



Internal ID15184137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30346015..30404213hg38UCSC Ensembl
Innerchr20:30347015..30403213hg38UCSC Ensembl
Outerchr20:30345015..30405213hg38UCSC Ensembl
chr20:29580691..29638889hg19UCSC Ensembl
Innerchr20:29581691..29637889hg19UCSC Ensembl
Outerchr20:29579691..29639889hg19UCSC Ensembl
chr20:28194352..28252550hg18UCSC Ensembl
Innerchr20:28195352..28251550hg18UCSC Ensembl
Outerchr20:28193352..28253550hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg3858199
hg1958199
hg1858199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2424e59
Supporting Variantsessv8692521
SamplesNA12878
Known GenesFRG1B, MLLT10P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337149
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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