A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687711



Internal ID9994471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78804877..78805082hg38UCSC Ensembl
Outerchr12:79198657..79198862hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746103, esv2746107, esv2746110
Supporting Variants
SamplesSSM005
Known Genes
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)essv6687711
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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