A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564191



Internal ID18418581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86725645..86730342hg38UCSC Ensembl
Outerchr4:86724848..86730903hg38UCSC Ensembl
Innerchr4:87646798..87651495hg19UCSC Ensembl
Outerchr4:87646001..87652056hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg386056
hg196056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762938
Samples
Known GenesPTPN13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564191
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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