A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400564



Internal ID15247527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56464468..56466166hg38UCSC Ensembl
Innerchr5:56465166..56465468hg38UCSC Ensembl
Outerchr5:56463468..56467166hg38UCSC Ensembl
chr5:55760295..55761993hg19UCSC Ensembl
Innerchr5:55760993..55761295hg19UCSC Ensembl
Outerchr5:55759295..55762993hg19UCSC Ensembl
chr5:55796052..55797750hg18UCSC Ensembl
Innerchr5:55797052..55796750hg18UCSC Ensembl
Outerchr5:55795052..55798750hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694809
SamplesNA19239
Known GenesLOC102467147
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400564
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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