A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743635



Internal ID9977919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132205678..132206152hg38UCSC Ensembl
Outerchr10:134019182..134019656hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724282, essv6695319, essv6791628, essv6912371, essv6795800, essv6948843
SamplesSSM071, SSM024, SSM045, SSM037, SSM015, SSM070
Known GenesDPYSL4
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)esv2743635
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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