A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796021



Internal ID9852652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11321610..11362173hg38UCSC Ensembl
Outerchr12:11474544..11515107hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3840564
hg1940564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745560, esv2745558
Supporting Variants
SamplesSSM071
Known GenesPRB1
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)essv6796021
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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