A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677594



Internal ID9943699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17112807..17113963hg38UCSC Ensembl
chr11:17134354..17135510hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958458, essv6584673
SamplesHG01047, NA19316
Known GenesPIK3C2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677594
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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