A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659710



Internal ID9579129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43631951..43632243hg38UCSC Ensembl
chr21:45051832..45052124hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5862803, essv6382324, essv6203063, essv6518568, essv5880551, essv6440578, essv5867958, essv6228759, essv5751825, essv6441652, essv5740856, essv5854537, essv5813906, essv6018144, essv5867119
SamplesNA07347, HG01072, HG00139, HG01101, HG00331, HG00250, HG01183, HG00315, NA18959, NA18609, HG00284, HG00237, NA12890, HG00251, HG00320
Known GenesHSF2BP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659710
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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