A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562671



Internal ID18417061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59581066..59584797hg38UCSC Ensembl
Outerchr1:59580829..59585381hg38UCSC Ensembl
Innerchr1:60046738..60050469hg19UCSC Ensembl
Outerchr1:60046501..60051053hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg384553
hg194553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761418
Samples
Known GenesFGGY
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562671
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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