A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864450



Internal ID13316936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53720641..53720674hg38UCSC Ensembl
Innerchr5:53720591..53720724hg38UCSC Ensembl
Outerchr5:53720558..53720757hg38UCSC Ensembl
chr5:53016471..53016504hg19UCSC Ensembl
Innerchr5:53016421..53016554hg19UCSC Ensembl
Outerchr5:53016388..53016587hg19UCSC Ensembl
chr5:53052228..53052261hg18UCSC Ensembl
Innerchr5:53052311..53052178hg18UCSC Ensembl
Outerchr5:53052145..53052344hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389954
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864450
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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