A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819323



Internal ID9872310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302016..52302749hg38UCSC Ensembl
Outerchr10:54061776..54062509hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736829
Supporting Variants
SamplesSSM078
Known GenesPRKG1-AS1
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)essv6819323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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