A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669088



Internal ID9935193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1000950..1049159hg38UCSC Ensembl
Outerchr5:1000913..1049209hg38UCSC Ensembl
Innerchr5:1001065..1049274hg19UCSC Ensembl
Outerchr5:1001028..1049324hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3848297
hg1948297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5576062
SamplesNA19108
Known GenesNKD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669088
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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