A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746220



Internal ID10327190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93554433..93554599hg38UCSC Ensembl
Outerchr12:93948209..93948375hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194e201
Supporting Variantsessv6939507, essv6908935, essv6857279, essv6965853, essv6728380
SamplesSSM027, SSM046, SSM087, SSM003, SSM014
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)esv2746220
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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