A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741017



Internal ID9975354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112398042..112398425hg38UCSC Ensembl
Outerchr10:114157800..114158183hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908609, essv6919889, essv6695279
SamplesSSM017, SSM014, SSM037
Known GenesACSL5
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)esv2741017
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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