A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745878



Internal ID3293830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51197062..51197172hg38UCSC Ensembl
Outerchr12:51590845..51590955hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857234, essv6673178
SamplesSSM031, SSM087
Known GenesPOU6F1
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)esv2745878
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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