A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657238



Internal ID9576657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28987780..28991212hg38UCSC Ensembl
Outerchr22:28987743..28991262hg38UCSC Ensembl
Innerchr22:29383768..29387200hg19UCSC Ensembl
Outerchr22:29383731..29387250hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383520
hg193520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407593, essv6050727
SamplesNA18502, NA19819
Known GenesZNRF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657238
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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