A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865576



Internal ID9663879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18369506..18369748hg38UCSC Ensembl
Outerchr12:18522440..18522682hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745612, esv2745610
Supporting Variants
SamplesSSM011
Known GenesPIK3C2G
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)essv6865576
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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