A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880549



Internal ID9929291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297843..212299260hg38UCSC Ensembl
Outerchr1:212471185..212472602hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722484
Supporting Variants
SamplesSSM094
Known GenesPPP2R5A
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)essv6880549
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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