A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731873



Internal ID9966191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6022478..6023382hg38UCSC Ensembl
Outerchr10:6064441..6065345hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38905
hg19905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752307, essv6803238, essv6912247, essv6681260, essv6952865, essv6771730, essv6672574, essv6845672, essv6832343, essv6746560, essv6965193
SamplesSSM027, SSM065, SSM073, SSM057, SSM031, SSM033, SSM085, SSM015, SSM010, SSM055, SSM025
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)esv2731873
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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