A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752526



Internal ID18380086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83210042..83211076hg38UCSC Ensembl
Outerchr16:83210030..83211088hg38UCSC Ensembl
Innerchr16:83243647..83244681hg19UCSC Ensembl
Outerchr16:83243635..83244693hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3553779
Supporting Variants
Samples
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752526
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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