A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877789



Internal ID9926806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297822..212299224hg38UCSC Ensembl
Outerchr1:212471164..212472566hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722484
Supporting Variants
SamplesSSM093
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)essv6877789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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