A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977207



Internal ID10080984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:41266031..41266330hg38UCSC Ensembl
Outerchr12:41659833..41660132hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745810, esv2745809
Supporting Variants
SamplesSSM029
Known GenesPDZRN4
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)essv6977207
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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