A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736937



Internal ID3287433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42451749..42452223hg38UCSC Ensembl
Outerchr8:42309267..42309741hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915610, essv6870274
SamplesSSM090, SSM016
Known GenesSLC20A2
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)esv2736937
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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