A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745733



Internal ID9980017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32215032..32215892hg38UCSC Ensembl
Outerchr12:32367966..32368826hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755553
SamplesSSM058
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)esv2745733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer