A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728380



Internal ID10139023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93554442..93554600hg38UCSC Ensembl
Outerchr12:93948218..93948376hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746220, esv2746218
Supporting Variants
SamplesSSM046
Known Genes
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)essv6728380
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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