A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949184



Internal ID10055041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131364145..131364300hg38UCSC Ensembl
Outerchr12:131848690..131848845hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746835, esv2746842, esv2746843
Supporting Variants
SamplesSSM024
Known GenesLOC338797
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)essv6949184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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