A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671062



Internal ID9590481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32571358..32575627hg38UCSC Ensembl
chr21:33943668..33947937hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384270
hg194270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5492215, essv5948074
SamplesNA20792, NA20768
Known GenesTCP10L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671062
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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