A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734905



Internal ID9969235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29306195..29306587hg38UCSC Ensembl
Outerchr10:29595124..29595516hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890980, essv6908530, essv6746583
SamplesSSM097, SSM014, SSM055
Known GenesLYZL1
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)esv2734905
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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