A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656865



Internal ID9922970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170438050..170442693hg38UCSC Ensembl
chr5:169865054..169869697hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384644
hg194644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5444023, essv6326666
SamplesHG00275, HG00126
Known GenesKCNIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656865
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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