A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858370



Internal ID9909332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8634156..8634224hg38UCSC Ensembl
Outerchr18:8634154..8634222hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716757, esv2716756
Supporting Variants
SamplesSSM087
Known GenesRAB12
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)essv6858370
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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