A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745672



Internal ID10326642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27819596..27824574hg38UCSC Ensembl
Outerchr12:27972529..27977507hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384979
hg194979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876663, essv6862379
SamplesSSM088, SSM092
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)esv2745672
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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