A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677962



Internal ID4722296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51598010..51598149hg19UCSC Ensembl
Outerchr12:51597973..51598199hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6539484, essv6285738
SamplesNA12043, NA06986
Known GenesPOU6F1
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677962
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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