A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940290



Internal ID9701213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3198544..3198864hg38UCSC Ensembl
Outerchr12:3307710..3308030hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745428, esv2745429
Supporting Variants
SamplesSSM022
Known GenesTSPAN9
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)essv6940290
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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