A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671472



Internal ID9937577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63854693..63855199hg38UCSC Ensembl
chr11:63622165..63622671hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529934, essv5763454
SamplesNA18563, NA18956
Known GenesMARK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671472
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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