A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303499



Internal ID15150447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56458540..56458541hg38UCSC Ensembl
Innerchr20:56458518..56458563hg38UCSC Ensembl
Outerchr20:56458517..56458564hg38UCSC Ensembl
chr20:55033596..55033597hg19UCSC Ensembl
Innerchr20:55033574..55033619hg19UCSC Ensembl
Outerchr20:55033573..55033620hg19UCSC Ensembl
chr20:54467003..54467004hg18UCSC Ensembl
Innerchr20:54467026..54466981hg18UCSC Ensembl
Outerchr20:54466980..54467027hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg385293
hg195293
hg185293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766785
SamplesNA12814
Known GenesCASS4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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