A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563281



Internal ID18764357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65558626..65564497hg38UCSC Ensembl
Outerchr1:65558412..65564682hg38UCSC Ensembl
Innerchr1:66024309..66030180hg19UCSC Ensembl
Outerchr1:66024095..66030365hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386271
hg196271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762028
Samples
Known GenesLEPR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563281
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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