A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952865



Internal ID9714433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6022586..6023095hg38UCSC Ensembl
Outerchr10:6064549..6065058hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731873
Supporting Variants
SamplesSSM025
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)essv6952865
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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