A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664724



Internal ID9930829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9569689..9570001hg38UCSC Ensembl
chr20:9550336..9550648hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958569, essv5584250, essv5688352, essv5942662, essv5717953, essv5765689
SamplesNA19394, NA19397, NA19350, NA19172, NA18520, NA18871
Known GenesPAK7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664724
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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