A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970768



Internal ID10074476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7842503..7958750hg38UCSC Ensembl
Outerchr12:7995099..8111346hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38116248
hg19116248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745495
Supporting Variants
SamplesSSM028
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)essv6970768
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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