A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739773



Internal ID10323409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96232081..96232569hg38UCSC Ensembl
Outerchr10:97991837..97992325hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856773, essv6924054, essv6842171, essv6702164, essv6912315, essv6716508
SamplesSSM087, SSM039, SSM084, SSM018, SSM015, SSM043
Known GenesBLNK
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)esv2739773
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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