A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864452



Internal ID12970266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55649503..55649505hg38UCSC Ensembl
Innerchr5:55649503..55649505hg38UCSC Ensembl
Outerchr5:55649501..55649507hg38UCSC Ensembl
chr5:54945331..54945333hg19UCSC Ensembl
Innerchr5:54945331..54945333hg19UCSC Ensembl
Outerchr5:54945329..54945335hg19UCSC Ensembl
chr5:54981088..54981090hg18UCSC Ensembl
Innerchr5:54981090..54981088hg18UCSC Ensembl
Outerchr5:54981086..54981092hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424207
Supporting Variants
SamplesNA12005
Known GenesSLC38A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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