A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563787



Internal ID7034887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42587264..42594897hg38UCSC Ensembl
Outerchr12:42981066..42988699hg19UCSC Ensembl
Outerchr12:41267333..41274966hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387634
hg197634
hg187634
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989438
Supporting Variants
SamplesHuRef
Known GenesPRICKLE1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563787
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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