A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908673



Internal ID9638709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18369087..18370259hg38UCSC Ensembl
Outerchr12:18522021..18523193hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745610
Supporting Variants
SamplesSSM002
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)essv6908673
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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