A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567187



Internal ID18768263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4050023..4050322hg38UCSC Ensembl
Outerchr6:4049976..4050386hg38UCSC Ensembl
Innerchr6:4050257..4050556hg19UCSC Ensembl
Outerchr6:4050210..4050620hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765934
Samples
Known GenesPRPF4B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567187
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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