A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753372



Internal ID18380932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61267198..61267279hg38UCSC Ensembl
chr17:59344559..59344640hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554625
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753372
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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