A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746189



Internal ID10327159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91328264..91330078hg38UCSC Ensembl
Outerchr12:91722041..91723855hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381815
hg191815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720738, essv6702500, essv6737936
SamplesSSM039, SSM050, SSM044
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)esv2746189
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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