A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672574



Internal ID9744156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6022817..6022868hg38UCSC Ensembl
Outerchr10:6064780..6064831hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731873, esv2731884
Supporting Variants
SamplesSSM031
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)essv6672574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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