A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779479



Internal ID10185013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51198985..51199432hg38UCSC Ensembl
Outerchr12:51592768..51593215hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745880
Supporting Variants
SamplesSSM067
Known GenesPOU6F1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6779479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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