A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668806



Internal ID9588225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116865114..116866433hg38UCSC Ensembl
chr11:116735830..116737149hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e199
Supporting Variantsessv5495089, essv5918740, essv6340706, essv5549651, essv6545096, essv6300118, essv5934459, essv5662631, essv5642798, essv6304486, essv5505536
SamplesNA07346, HG01168, NA20795, NA12348, NA20760, HG01334, HG00146, NA20773, HG00254, NA19780, HG01061
Known GenesSIK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668806
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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