A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745564



Internal ID3293516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11874396..11874654hg38UCSC Ensembl
Outerchr12:12027330..12027588hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752560
SamplesSSM057
Known GenesETV6, RNU6-19P
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)esv2745564
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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