A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783979



Internal ID10189140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55363295..55364888hg38UCSC Ensembl
Outerchr15:55655493..55657086hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749724
Supporting Variants
SamplesSSM068
Known GenesCCPG1, DYX1C1-CCPG1
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)essv6783979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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