A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746185



Internal ID10327155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90671637..90672284hg38UCSC Ensembl
Outerchr12:91065414..91066061hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885116, essv6862451, essv6724547
SamplesSSM045, SSM088, SSM095
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)esv2746185
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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