A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745968



Internal ID10326938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62629319..62629394hg38UCSC Ensembl
Outerchr12:63023099..63023174hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857244
SamplesSSM087
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)esv2745968
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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