A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745880



Internal ID5056612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51592667..51593191hg19UCSC 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 Variantsessv6851210, essv6949110, essv6924367, essv6702473, essv6842457, essv6827722, essv6783581, essv6970832, essv6673179, essv6936154, essv6779479, essv6959298
SamplesSSM086, SSM084, SSM031, SSM039, SSM024, SSM067, SSM028, SSM021, SSM068, SSM026, SSM018, SSM080
Known GenesPOU6F1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745880
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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