A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746509



Internal ID10327479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123521600..123521858hg38UCSC Ensembl
Outerchr12:124006147..124006405hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735256, essv6744084
SamplesSSM053, SSM049
Known GenesRILPL1
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)esv2746509
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