A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728304



Internal ID10138955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7820567..7925577hg38UCSC Ensembl
Outerchr12:7973163..8078173hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38105011
hg19105011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745493
Supporting Variants
SamplesSSM046
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)essv6728304
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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