A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746302



Internal ID9980586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103966022..103979831hg38UCSC Ensembl
Outerchr12:104359800..104373609hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3813810
hg1913810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765812, essv6936194, essv6977298, essv6726709, essv6735245, essv6763445
SamplesSSM021, SSM029, SSM062, SSM001, SSM049, SSM063
Known GenesTDG
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)esv2746302
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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