A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6736115



Internal ID10145986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220263038..220267515hg38UCSC Ensembl
Outerchr1:220436380..220440857hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384478
hg194478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723173
Supporting Variants
SamplesSSM050
Known GenesAURKAPS1, RAB3GAP2
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)essv6736115
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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