A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850706



Internal ID10249118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:62263004..62263428hg38UCSC Ensembl
Outerchr10:64022763..64023187hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737540
Supporting Variants
SamplesSSM086
Known GenesRTKN2
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)essv6850706
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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