A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741106



Internal ID10295222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:113781103..113781588hg38UCSC Ensembl
Outerchr10:115540862..115541347hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842192, essv6724235, essv6815234, essv6672740, essv6677571, essv6948803, essv6775469, essv6894429, essv6879314, essv6958816, essv6965355, essv6944636, essv6827440
SamplesSSM027, SSM024, SSM045, SSM093, SSM023, SSM084, SSM026, SSM032, SSM031, SSM066, SSM080, SSM077, SSM098
Known GenesPLEKHS1
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)esv2741106
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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