A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819685



Internal ID9872637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27281075..27281383hg38UCSC Ensembl
Outerchr12:27434008..27434316hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664, esv2745667
Supporting Variants
SamplesSSM078
Known GenesSTK38L
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)essv6819685
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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