A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678419



Internal ID9944524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34199214..34204494hg38UCSC Ensembl
chr11:34220761..34226041hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385281
hg195281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5413833, essv6264666, essv6165659, essv6128044, essv5970428
SamplesNA18947, NA18565, NA18980, NA18561, NA18538
Known GenesABTB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678419
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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