A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6895998



Internal ID9665982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6055437..6055883hg38UCSC Ensembl
Outerchr10:6097400..6097846hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731895
Supporting Variants
SamplesSSM012
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)essv6895998
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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