A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673208



Internal ID10090272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77982263..77982397hg38UCSC Ensembl
Outerchr12:78376043..78376177hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746098, esv2746096
Supporting Variants
SamplesSSM031
Known GenesNAV3
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)essv6673208
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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