A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740788



Internal ID10294904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7827543..7929807hg38UCSC Ensembl
Outerchr12:7980139..8082403hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102265
hg19102265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e201
Supporting Variantsessv6673108
SamplesSSM031
Known GenesSLC2A14, SLC2A3
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)esv2740788
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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