A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5918346



Internal ID8895749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111102730..111104464hg38UCSC Ensembl
Outerchr2:111102693..111104514hg38UCSC Ensembl
Innerchr2:111860307..111862041hg19UCSC Ensembl
Outerchr2:111860270..111862091hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666908
Supporting Variants
SamplesNA19446
Known GenesACOXL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5918346
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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