A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656691



Internal ID9922796
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5880663, essv5736571, essv6452743
SamplesNA18868, NA20519, NA12827
Known GenesSLC27A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656691
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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