A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771475



Internal ID9654082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2719867..2720665hg38UCSC Ensembl
Outerchr12:2829033..2829831hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745417, esv2745416
Supporting Variants
SamplesSSM008
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)essv6771475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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