A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744062



Internal ID9806350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79878096..79879758hg38UCSC Ensembl
Outerchr12:80271876..80273538hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381663
hg191663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746114
Supporting Variants
SamplesSSM053
Known GenesPPP1R12A
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)essv6744062
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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