A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753110



Internal ID10161028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14822880..14823402hg38UCSC Ensembl
Outerchr18:14822879..14823401hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716844, esv2716842
Supporting Variants
SamplesSSM057
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)essv6753110
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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