A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731884



Internal ID3282380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6022817..6022876hg38UCSC Ensembl
Outerchr10:6064780..6064839hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672574, essv6965193
SamplesSSM027, SSM031
Known GenesIL2RA
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)esv2731884
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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