A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716850



Internal ID9951139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21667117..21674310hg38UCSC Ensembl
Outerchr18:19247078..19254271hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387194
hg197194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767820
SamplesSSM001
Known GenesABHD3
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)esv2716850
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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