A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831327



Internal ID10231676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51402953..51403344hg38UCSC Ensembl
Outerchr12:51796737..51797128hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745884
Supporting Variants
SamplesSSM081
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)essv6831327
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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