A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670703



Internal ID9936808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44950882..44951875hg38UCSC Ensembl
chr21:46370797..46371790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5432761, essv6035691, essv6593625, essv5485425, essv6586464
SamplesHG01462, HG01051, HG00326, HG01149, HG00740
Known GenesFAM207A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670703
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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