A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664011



Internal ID9583430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152351867..152352755hg38UCSC Ensembl
Outerchr1:152351833..152352790hg38UCSC Ensembl
Innerchr1:152324343..152325231hg19UCSC Ensembl
Outerchr1:152324309..152325266hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6541363
SamplesHG00120
Known GenesFLG2, FLG-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664011
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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