A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742769



Internal ID10296885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7827227..7929552hg38UCSC Ensembl
Outerchr12:7979823..8082148hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102326
hg19102326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e201
Supporting Variantsessv6912560
SamplesSSM015
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)esv2742769
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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