A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761230



Internal ID18735476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123517915..123518211hg38UCSC Ensembl
Outerchr3:123517844..123518257hg38UCSC Ensembl
Innerchr3:123236762..123237058hg19UCSC Ensembl
Outerchr3:123236691..123237104hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562483
Supporting Variants
Samples
Known GenesPTPLB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761230
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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