A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745739



Internal ID9980023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253857..32254003hg38UCSC Ensembl
Outerchr12:32406791..32406937hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e201
Supporting Variantsessv6865687, essv6977189
SamplesSSM011, SSM029
Known GenesBICD1
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)esv2745739
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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