A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735894



Internal ID10319530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44179740..44179882hg38UCSC Ensembl
Outerchr10:44675188..44675330hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688034, essv6965264, essv6856695, essv6866745
SamplesSSM027, SSM087, SSM089, SSM035
Known Genes
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)esv2735894
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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