A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668484



Internal ID9934589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170667247..170669708hg38UCSC Ensembl
Outerchr5:170667210..170669758hg38UCSC Ensembl
Innerchr5:170094251..170096712hg19UCSC Ensembl
Outerchr5:170094214..170096762hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382549
hg192549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6220844, essv6072752
SamplesHG00689, HG00651
Known GenesKCNIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668484
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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