A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746217



Internal ID10327187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93500985..93501900hg38UCSC Ensembl
Outerchr12:93894761..93895676hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695601, essv6851273, essv6970855, essv6927970, essv6882361, essv6945009, essv6842478, essv6815515, essv6677872, essv6953281, essv6709545, essv6702505, essv6908934
SamplesSSM039, SSM041, SSM023, SSM028, SSM084, SSM019, SSM094, SSM032, SSM014, SSM086, SSM037, SSM077, SSM025
Known GenesMRPL42
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)esv2746217
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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