A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745668



Internal ID9979952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27495215..27502220hg38UCSC Ensembl
Outerchr12:27648148..27655153hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387006
hg197006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677814, essv6673148, essv6916124, essv6924343
SamplesSSM031, SSM016, SSM032, SSM018
Known GenesSMCO2
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)esv2745668
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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