A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746021



Internal ID10326991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69891320..69891883hg38UCSC Ensembl
Outerchr12:70285100..70285663hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920217, essv6949121
SamplesSSM024, SSM017
Known Genes
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)esv2746021
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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