A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745642



Internal ID9979926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24177454..24178354hg38UCSC Ensembl
Outerchr12:24330388..24331288hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977175, essv6959256
SamplesSSM029, SSM026
Known GenesSOX5
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)esv2745642
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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