A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562693



Internal ID18417083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59640577..59641420hg38UCSC Ensembl
Outerchr1:59640557..59641430hg38UCSC Ensembl
Innerchr1:60106249..60107092hg19UCSC Ensembl
Outerchr1:60106229..60107102hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761440
Samples
Known GenesFGGY
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562693
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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