A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936329



Internal ID9641790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51553747..51553883hg38UCSC Ensembl
Outerchr10:53313507..53313643hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736707, esv2736696
Supporting Variants
SamplesSSM003
Known GenesPRKG1
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)essv6936329
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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