A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663522



Internal ID9929627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45356987..45357659hg38UCSC Ensembl
Outerchr1:45356804..45357817hg38UCSC Ensembl
Innerchr1:45822659..45823331hg19UCSC Ensembl
Outerchr1:45822476..45823489hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6372977, essv6084117, essv6032152, essv6105578, essv6078109, essv5466837, essv5973272, essv6404449, essv5398704, essv5873702, essv5911274, essv5859025, essv6210034, essv6167819, essv6570004, essv6430698
SamplesNA18592, NA19067, HG00663, NA18567, HG00369, NA18986, HG00530, NA18638, NA19007, NA19082, NA18534, NA19084, NA19083, NA18984, NA18624, NA18620
Known GenesTESK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663522
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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