A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851211



Internal ID10249571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51402971..51403349hg38UCSC Ensembl
Outerchr12:51796755..51797133hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745884
Supporting Variants
SamplesSSM086
Known GenesSLC4A8
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)essv6851211
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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