A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668602



Internal ID9934707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58585599..58586556hg38UCSC Ensembl
chr20:57160655..57161612hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523762, essv6142959, essv5612663, essv5940808, essv5758536, essv5840398, essv5632589, essv6171156
SamplesNA18502, NA19130, HG01134, NA19238, NA18871, NA19240, NA19324, NA19346
Known GenesAPCDD1L-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668602
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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