A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666992



Internal ID9738743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297875..212299261hg38UCSC Ensembl
Outerchr1:212471217..212472603hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722484
Supporting Variants
SamplesSSM030
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)essv6666992
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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