A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925091



Internal ID10031960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9225120..9225447hg38UCSC Ensembl
Outerchr18:9225118..9225445hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716768
Supporting Variants
SamplesSSM018
Known GenesANKRD12
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)essv6925091
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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