A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746436



Internal ID3294388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117321854..117322030hg38UCSC Ensembl
Outerchr12:117759659..117759835hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953293, essv6815526, essv6940414
SamplesSSM022, SSM025, SSM077
Known GenesNOS1
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)esv2746436
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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