A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663979



Internal ID9930084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24308346..24313459hg38UCSC Ensembl
chr5:24308455..24313568hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg385114
hg195114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5496663, essv6162032, essv5938175, essv6384097, essv5706344, essv6061151, essv6438691, essv6415902
SamplesNA18502, NA12286, NA19719, NA19257, NA19469, NA19470, NA19430, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663979
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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