A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720398



Internal ID9650497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619450..243620538hg38UCSC Ensembl
Outerchr1:243782752..243783840hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726518
Supporting Variants
SamplesSSM007
Known GenesAKT3
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)essv6720398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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