A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862003



Internal ID9911700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302258..52302325hg38UCSC Ensembl
Outerchr10:54062018..54062085hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736840, esv2736862, esv2736829, esv2736851
Supporting Variants
SamplesSSM088
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)essv6862003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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