A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746878



Internal ID10327848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131582496..131582734hg38UCSC Ensembl
Outerchr12:132067041..132067279hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713089, essv6949189
SamplesSSM024, SSM042
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)esv2746878
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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