A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6452743



Internal ID9448864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128941231..128971264hg38UCSC Ensembl
Outerchr5:128941074..128971417hg38UCSC Ensembl
Innerchr5:128276924..128306957hg19UCSC Ensembl
Outerchr5:128276767..128307110hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3830344
hg1930344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656691
Supporting Variants
SamplesNA18868
Known GenesSLC27A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6452743
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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