A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866704



Internal ID10263515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11514143..11514223hg38UCSC Ensembl
Outerchr10:11556142..11556222hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732984, esv2732995
Supporting Variants
SamplesSSM089
Known GenesUSP6NL
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)essv6866704
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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