A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746290



Internal ID10327260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:102867822..102868387hg38UCSC Ensembl
Outerchr12:103261600..103262165hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787817, essv6673244, essv6755617, essv6746899, essv6735244, essv6765811
SamplesSSM058, SSM069, SSM031, SSM055, SSM049, SSM063
Known GenesPAH
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)esv2746290
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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