A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741714



Internal ID10151248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14822952..14823312hg38UCSC Ensembl
Outerchr18:14822951..14823311hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716844, esv2716842
Supporting Variants
SamplesSSM052
Known GenesANKRD30B
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)essv6741714
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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