A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5737530



Internal ID9111543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116254402..116290742hg38UCSC Ensembl
Outerchr5:116254365..116290792hg38UCSC Ensembl
Innerchr5:115590099..115626439hg19UCSC Ensembl
Outerchr5:115590062..115626489hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3836428
hg1936428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677603
Supporting Variants
SamplesHG01108
Known GenesCOMMD10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5737530
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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