A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747919



Internal ID9810227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297818..212299265hg38UCSC Ensembl
Outerchr1:212471160..212472607hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722484
Supporting Variants
SamplesSSM056
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)essv6747919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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