A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562993



Internal ID18417383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62300329..62304786hg38UCSC Ensembl
Outerchr1:62299615..62305329hg38UCSC Ensembl
Innerchr1:62766001..62770457hg19UCSC Ensembl
Outerchr1:62765287..62771000hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385715
hg195714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761740
Samples
Known GenesKANK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562993
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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